(used for variant description)
(last modified September 12, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_145207.2 in the SPATA5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering SPATA5 transcript NM_145207.2.
(upstream sequence)
. g.5013
aagtttttctctc c.-61
. . . . . . g.5073
agttgaagcgcgcacattgagtcggcttttctactgcttcggctagggtaccttgtgacc c.-1
. . . . . . g.5133
ATGTCTTCCAAGAAGAATAGAAAGCGGTTGAACCAAAGCGCGGAAAATGGTTCGTCCTTG c.60
M S S K K N R K R L N Q S A E N G S S L p.20
. . . . . . g.5193
CCCTCTGCTGCTTCCTCTTGTGCGGAGGCACGGGCTCCTTCTGCTGGATCAGACTTCGCG c.120
P S A A S S C A E A R A P S A G S D F A p.40
. . . . | 02 . . g.9581
GCAACCTCCGGGACTCTGACGGTGACCAACTTATTAGAAAAGG | TAGATGACAAAATTCCT c.180
A T S G T L T V T N L L E K V | D D K I P p.60
. . . . . . g.9641
AAAACATTCCAGAATTCCCTTATTCATCTTGGACTCAACACTATGAAGTCTGCAAATATA c.240
K T F Q N S L I H L G L N T M K S A N I p.80
. . . . | 03 . g.10982
TGTATAGGTCGACCAGTGTTGCTTACTAGTTTGAACGGAAAGCAAGAG | GTGTATACAGCC c.300
C I G R P V L L T S L N G K Q E | V Y T A p.100
. . . . . . g.11042
TGGCCTATGGCAGGATTTCCTGGAGGCAAGGTCGGCCTGAGTGAAATGGCACAGAAAAAT c.360
W P M A G F P G G K V G L S E M A Q K N p.120
. . . . . . g.11102
GTGGGTGTGAGGCCTGGTGATGCCATCCAGGTCCAGCCTCTTGTGGGTGCTGTGCTACAG c.420
V G V R P G D A I Q V Q P L V G A V L Q p.140
. . | 04 . . . . g.15403
GCTGAGGAAATGGATGTGGCACTGAG | TGACAAAGATATGGAAATTAATGAAGAAGAACTG c.480
A E E M D V A L S | D K D M E I N E E E L p.160
. . | 05 . . . . g.16062
ACTGGTTGTATCCTGAGAAAACTAG | ATGGCAAGATTGTTTTACCAGGCAACTTTCTGTAT c.540
T G C I L R K L D | G K I V L P G N F L Y p.180
. . . . . . g.16122
TGTACATTCTATGGACGACCGTACAAGCTGCAAGTATTGCGAGTGAAAGGGGCAGATGGC c.600
C T F Y G R P Y K L Q V L R V K G A D G p.200
. . . . . . g.16182
ATGATATTGGGAGGGCCTCAGAGTGACTCTGACACTGATGCCCAAAGAATGGCCTTTGAA c.660
M I L G G P Q S D S D T D A Q R M A F E p.220
. . . . . . g.16242
CAGTCCAGCATGGAAACCAGTAGCCTGGAGTTATCCTTACAGCTAAGCCAGTTAGATCTG c.720
Q S S M E T S S L E L S L Q L S Q L D L p.240
. . . . . . g.16302
GAGGATACCCAGATCCCAACATCAAGAAGTACTCCTTATAAACCAATTGATGACAGAATT c.780
E D T Q I P T S R S T P Y K P I D D R I p.260
. . . . . . g.16362
ACAAATAAAGCCAGTGATGTTTTGCTGGATGTTACACAGAGCCCTGGAGATGGCAGTGGA c.840
T N K A S D V L L D V T Q S P G D G S G p.280
. . . . . . g.16422
CTTATGCTAGAGGAAGTCACAGGTCTTAAATGTAATTTTGAATCTGCCAGAGAAGGAAAT c.900
L M L E E V T G L K C N F E S A R E G N p.300
. . . . . . g.16482
GAGCAACTTACTGAAGAAGAGAGACTGCTAAAGTTCAGCATAGGAGCAAAGTGCAATACT c.960
E Q L T E E E R L L K F S I G A K C N T p.320
. . . . . . g.16542
GATACTTTTTATTTTATTTCTTCAACAACAAGAGTCAATTTTACAGAGATTGATAAAAAT c.1020
D T F Y F I S S T T R V N F T E I D K N p.340
. . . . . . g.16602
TCAAAAGAGCAAGACAACCAATTCAAAGTAACTTATGACATGATAGGAGGATTAAGTAGC c.1080
S K E Q D N Q F K V T Y D M I G G L S S p.360
. . . . . . g.16662
CAGCTGAAAGCAATTAGAGAAATAATTGAATTGCCCCTCAAACAGCCTGAGCTTTTCAAG c.1140
Q L K A I R E I I E L P L K Q P E L F K p.380
| 06. . . . . . g.17697
AGTTATG | GAATTCCTGCCCCTAGAGGAGTGTTACTTTATGGTCCTCCAGGTACTGGAAAA c.1200
S Y G | I P A P R G V L L Y G P P G T G K p.400
. . . . . . g.17757
ACAATGATCGCCAGGGCTGTTGCTAATGAAGTTGGAGCCTATGTTTCTGTAATTAATGGT c.1260
T M I A R A V A N E V G A Y V S V I N G p.420
. | 07. . . . . g.18073
CCTGAAATTATAAGCAA | ATTCTATGGTGAGACTGAAGCAAAGTTACGTCAGATATTTGCT c.1320
P E I I S K | F Y G E T E A K L R Q I F A p.440
. | 08 . . . . . g.20102
GAAGCCACTCTACG | ACACCCATCAATTATTTTTATTGATGAGCTGGATGCACTTTGTCCG c.1380
E A T L R | H P S I I F I D E L D A L C P p.460
. . . . . . g.20162
AAAAGAGAGGGGGCCCAGAATGAAGTGGAAAAAAGAGTTGTGGCTTCACTCTTAACACTG c.1440
K R E G A Q N E V E K R V V A S L L T L p.480
. | 09 . . . . g.29205
ATGGATGGCATTGGTTCA | GAAGTAAGTGAAGGACAAGTGTTGGTTCTTGGGGCCACAAAT c.1500
M D G I G S | E V S E G Q V L V L G A T N p.500
. . . . . . g.29265
CGCCCTCATGCCTTGGATGCTGCTCTCCGAAGACCTGGGCGATTTGATAAAGAGATTGAG c.1560
R P H A L D A A L R R P G R F D K E I E p.520
. . . . . . g.29325
ATTGGAGTTCCCAATGCTCAGGACCGGCTAGATATTCTCCAGAAACTGCTTCGAAGGGTA c.1620
I G V P N A Q D R L D I L Q K L L R R V p.540
. . . . . . g.29385
CCCCATTTGCTCACTGAGGCTGAGCTGCTGCAGCTGGCAAATAGTGCTCATGGATACGTT c.1680
P H L L T E A E L L Q L A N S A H G Y V p.560
. . . | 10 . . . g.61188
GGAGCAGACTTGAAAGTCTTGTGTAATGAAGCAG | GTCTCTGTGCCTTGCGGAGAATCCTG c.1740
G A D L K V L C N E A G | L C A L R R I L p.580
. . . . . . g.61248
AAAAAACAGCCTAACCTCCCTGATGTCAAGGTGGCTGGACTGGTGAAGATTACTCTGAAG c.1800
K K Q P N L P D V K V A G L V K I T L K p.600
. . . . . . g.61308
GATTTCTTGCAGGCAATGAATGATATCAGACCCAGTGCCATGAGGGAAATAGCAATTGAT c.1860
D F L Q A M N D I R P S A M R E I A I D p.620
| 11 . . . . . g.110167
GTCCCAAAT | GTATCCTGGTCAGATATAGGAGGACTGGAAAGTATCAAACTGAAGTTGGAA c.1920
V P N | V S W S D I G G L E S I K L K L E p.640
. . . . . . g.110227
CAGGCTGTGGAATGGCCCTTAAAACATCCAGAGTCTTTCATTCGAATGGGTATTCAGCCA c.1980
Q A V E W P L K H P E S F I R M G I Q P p.660
. . . . . . g.110287
CCTAAAGGAGTTCTTCTCTATGGGCCACCTGGGTGCTCTAAAACAATGATAGCAAAGGCT c.2040
P K G V L L Y G P P G C S K T M I A K A p.680
. . . | 12 . . g.138338
TTGGCCAATGAGAGTGGACTGAATTTTCTAGCTATAAAG | GGGCCTGAATTAATGAATAAA c.2100
L A N E S G L N F L A I K | G P E L M N K p.700
. . . | 13 . . . g.139166
TATGTTGGTGAATCTGAAAGAGCAGTTAGAGAG | ACCTTCCGAAAAGCAAGAGCAGTGGCG c.2160
Y V G E S E R A V R E | T F R K A R A V A p.720
. . . . . | 14 . g.172516
CCTTCCATTATTTTCTTTGATGAACTGGATGCCTTAGCAGTTGAAAGGGGCAG | TTCTTTA c.2220
P S I I F F D E L D A L A V E R G S | S L p.740
. . . . . . g.172576
GGTGCTGGGAATGTAGCCGATCGTGTTTTGGCTCAGCTCTTAACAGAAATGGATGGGATT c.2280
G A G N V A D R V L A Q L L T E M D G I p.760
. . . . . . g.172636
GAACAGCTAAAGGATGTGACCATTTTGGCAGCTACTAACCGTCCAGATAGGATAGACAAG c.2340
E Q L K D V T I L A A T N R P D R I D K p.780
| 15 . . . . . . g.338006
| GCTTTGATGCGGCCTGGAAGAATTGATAGAATCATCTATGTGCCTTTACCGGATGCAGCA c.2400
| A L M R P G R I D R I I Y V P L P D A A p.800
. . . . . . g.338066
ACAAGAAGGGAAATATTTAAGCTGCAGTTTCACTCCATGCCTGTCAGTAATGAAGTTGAC c.2460
T R R E I F K L Q F H S M P V S N E V D p.820
. . . . | 16 . . g.395833
CTGGATGAACTCATCCTTCAAACCGACGCATACTCAGGAGCAGAG | ATTGTAGCTGTCTGC c.2520
L D E L I L Q T D A Y S G A E | I V A V C p.840
. . . . . . g.395893
AGAGAGGCAGCTCTTCTGGCTCTGGAAGAAGACATTCAAGCCAATCTCATCATGAAAAGA c.2580
R E A A L L A L E E D I Q A N L I M K R p.860
. . . . . . g.395953
CATTTCACTCAGGCCTTGAGCACTGTGACACCTAGAATTCCTGAGTCATTGAGACGTTTT c.2640
H F T Q A L S T V T P R I P E S L R R F p.880
. . . . g.395995
TATGAAGATTATCAAGAGAAGAGTGGGCTGCATACACTCTGA c.2682
Y E D Y Q E K S G L H T L X p.893
. . . . . . g.396055
gaaaatatatatattcaagatgctgaaaatcctttccagagaaaatttgtttctttttaa c.*60
. . . . . . g.396115
aattttttgagagtgttaaaaaaaattttactaggcaaaatgtttgaagtatgttcagta c.*120
. . . . . . g.396175
gaatttaggggctttggttcttacagattttcaagtcatgtaagtacagtgaaaatatct c.*180
. . . . . . g.396235
ctgagcataagtttcaatcagttttacctggaaatttgtggtgtggtttaaaaaacaaat c.*240
. . . . . . g.396295
gtttagctttttcatttgcgacctagtctgttcatcccatgaagcgatttctttttccag c.*300
. . . . . . g.396355
aatctgtttgagtgtctttctaaaatgccaaacatgttggcatcaattttatacagggat c.*360
. . . . . . g.396415
ataaaaaagtatatgtggataaattttttgtaatctttagggatataaaaaagtgtatgt c.*420
. . . . . . g.396475
ggataaattttttgtaatctttatttttgaaggccagccagtaaaatggcccaatgtgcc c.*480
. . . . . . g.396535
agccaggcttatgtggccttgttttcaaatatacatatatgtgttatcattaaaattcat c.*540
. . . . . . g.396595
atatgcatttttgttttagccttcttaatctctacctatggccaaaaaaattttttttga c.*600
. . . . . . g.396655
gagatattttgtataatacaatgccctttgaaagtgtaagcccactctaagcctagatca c.*660
. . . . . . g.396715
gtaggcttgggttttttttgttgttgttttgtcttttttttttttttttgagacagagtc c.*720
. . . . . . g.396775
tcactctgtcacctaagctggagtgcagtggcacgatcttggctcactgcaacctccgcc c.*780
. . . . . . g.396835
tcctgagttcaagcaattctcctgcctcaacctcctgagtagctgggactacaggtgtgc c.*840
. . . . . . g.396895
accaccacacgcagctaatttttatatttttagtagagacaaggtttcaccatgttagcc c.*900
. . . . . . g.396955
aggccggtctcgaactgctggcctcaggtgacccacccacctgagcctcccaaagtgctg c.*960
. . . . . . g.397015
ggattacaggcgtgagccaccatacctggagaggttttgtgtttttgtttttttttcata c.*1020
. . . . . . g.397075
aaatgcttttaataaatcatatgaagcattcatgtttttacttatacatattttcagggt c.*1080
. . . . . . g.397135
accagtaaactttttagttcaaagataggccaaattgtacttttttttttttatgagaca c.*1140
. . . . . . g.397195
gagtctcgctgctctgtcgcccaggctagagtgcagtggcgtgatctaggctcactgcaa c.*1200
. . . . . . g.397255
gctctgcctcctgggtttacttacgccattctcccgcctcagcctcctgagtagctggga c.*1260
. . . . . . g.397315
ctacaggtgcccaccaccatgcctggctaatttttttttttttttttttttattagagac c.*1320
. . . . . . g.397375
agggtttcaccgtgttagccaggatgatctcgatctcctgacctcgtgatccgcccgcct c.*1380
. . . . . . g.397435
cggcctcccaaagtgctgggattacaggcatgagctactgcgccctgccgccaaattgta c.*1440
. . . . . . g.397495
atcttaaacatattatgttgcattctaaatatgtatatttatgcttcttgttatttatcc c.*1500
. . . . . . g.397555
tcaggatttcttcacactttattacttcataaatactcttgaaaaagctttcagaaagtg c.*1560
. . . . . . g.397615
attctctgacttcagatcagaaactggcaatgggaagaatgtgcacttaaacttgatcac c.*1620
. . . . . . g.397675
tgtagatctttgaaaattcccagaaagacaaatcagacaagaaatacctgattatcaaaa c.*1680
. . . . . . g.397735
taatgggctatacagttttgtggtggcatacattccttgtttgtttgtttagagatagga c.*1740
. . . . . . g.397795
tcttgttgtgtcacccaggctggaatgcagtggcacagtcgtagctcactgcaccttcaa c.*1800
. . . . . . g.397855
actcctggagctcaagtgatcctcctgactcagcctcctgagtagctaggacaacaggtg c.*1860
. . . . . . g.397915
cacactgccatgtcaggctaatttttttttttaaacagagagacagagtcttgctgtgtt c.*1920
. . . . . . g.397975
gcccaggctggtctccaactcctggcctcaggtgaccctcctgcctcagcttcccaaagg c.*1980
. . . . . . g.398035
gctgagattacaggtgtgagccaccatgcccagcctgtggtgacatatattctgaagtca c.*2040
. . . . . . g.398095
catctcaaatatttaatcctcaaatatatttacatcctcaaaaatatcagattttcaaga c.*2100
. . . . . . g.398155
caacactggtttaccagtacataaacccacctaggggacaaagaatattaccacttagaa c.*2160
. . . . . . g.398215
ctgtgttgtcaaatacaataaccactaattgtatctgaccattttaattaaattaattac c.*2220
. . . . . . g.398275
aattaaataatatttaagaattagtttatcagacatatcagccacatttcaaatgctcaa c.*2280
. . . . . . g.398335
tagctacatgtggcaagggtctgccacactggacagagtagaaaacattcccatcattca c.*2340
. . . . . . g.398395
gaaggttctcttggacgctgcagatctggaaaacaagacttccatattgaaataaataca c.*2400
. . . . . . g.398455
acctcaaaacttttatgctctgtgttccctttagttgttatctacatagaaaattatgaa c.*2460
. . . . . . g.398515
acaagagaggaacttaccttcttccctattaaatatatggctaagggcacaagaaaataa c.*2520
. . . . . . g.398575
gaggaaaacttatccttcagggcctaaacaaggaaatgaaagaaatctcattcccaatag c.*2580
. . . . . . g.398635
aataaaaaccagaagcttgaaatgactctggtgcaggaggctgggtggtggggaggaggg c.*2640
. . . . . . g.398695
tagcagtctcaatcaacaagtttagatattaatagccactcaaagccttcagcccatata c.*2700
. . . . . . g.398755
acatgaagtgacaactgagctctgcacataatgctcaagctctataataaccaacactct c.*2760
. . . . . . g.398815
cagcacaagggtagacaagaaaagaaaaatctcctgctggccaggaagaccacaaggagg c.*2820
. . . . . . g.398875
ctttctgacttggcctgtgcttttgatttttaaaacattttttaaaagaggcctctctgg c.*2880
. . . . . . g.398935
gctgggcgcggtggctcatgcctgtaatcccagcactttgggaggccgaggcaggcggat c.*2940
. . . . . . g.398995
cacgaggtcagaagatcaagaccatcctggctaacacagtgaaaccccgtctctactaaa c.*3000
. . . . . . g.399055
aattcaaaaaattagccgggaatggtggtgggcgcctgtagtcccagttactcgggaggc c.*3060
. . . . . . g.399115
tgaggcaggagaatggcgtaaacccgggagacggagcttgcagtgagctgagattgcgcc c.*3120
. . . . . . g.399175
actgcactccagcctgggtgacagagtgagactccgtctcaaaaaaaaaaaaaaaaaaac c.*3180
. . . . . . g.399235
ctctgagaattctgactatgagcttacctgcccatggctttagaatgatttgaattcaca c.*3240
. . . . . . g.399295
ctaccttcaaattcatgaaacctcaaaacctacaaattaacctaaaaacatggagccaag c.*3300
. . . . . . g.399355
ctaaaaatgccctgggggtaactagcacttggactagttacaggaatgtagcttcgtctc c.*3360
. . . . . . g.399415
agaggattccaaaagctaatgccttgcttaccaagggcttgtaatctcacaggatgtgat c.*3420
. . . . . . g.399475
gggtggggcctcagatctgctgatgggagcataaattggtacaaccactttggaaggcaa c.*3480
. . . . . . g.399535
ctggctatctagcaaagttgaagaccctacaatctaacagttctcctaggtgcatatccc c.*3540
. . . . . . g.399595
agagcaagtctcacattgatgcagtgagatagtgaataggaaagttcatagcaccattat c.*3600
. . . . . . g.399655
ttttaagtagtaagaacccggaaacaatctaaatatccatcagtaatagatatatgtgat c.*3660
. . . . . . g.399715
agtcatacaatggaatactgtggcaataaaaaataattagagctacatatgaaataggga c.*3720
. . . . . . g.399775
tgaaacatggatgaacaaagaatgttttagaggaatatgatatttaaaatttgaagcatg c.*3780
. . . . . . g.399835
aaaaatatgtgtttatgggggcatatatagtggaagaataaatgaatagaaaagaaaagc c.*3840
. . . . . . g.399895
accaaatactggtgaggaatttcctcaggggagaaaagttgagctgcttcaattgtgtca c.*3900
. . . . . . g.399955
gtaatgtttcatatcttagggtgggtgatgggaatataggtgctgatttaatatagtctg c.*3960
. . . . . . g.400015
tactttttgtgtacctaaatatttcgtgataatttttaaaagatgggccttaaaccaata c.*4020
. . . . . . g.400075
cagtcatatcatttaactcaattccatgaatttacaatgcaatccacagtgcccacaacc c.*4080
. . . . . . g.400135
ccatgtttctggaaaatcaggagtattgggtacaatggaataaaatgcaagaaggcaaat c.*4140
. . . . . . g.400195
aagagatcaggcttttaggacctaggaaacaaataaagaggaatttgttgctgaaagtaa c.*4200
. . . . . . g.400255
tgtgtagctgacactctcattacctgacacaatgggagacattatgtctgggaataagac c.*4260
. . . . . . g.400315
atctatttccatagcactgtagtcctgcaaaggagttggaagttatgaatttttaaagat c.*4320
. . . . . . g.400375
tttagaacattatatctttagtctctcataagccaattatttatatctccacatagccca c.*4380
. . . . . . g.400435
ttattaccattgaaaaggcatgcaattcttctatttgaagcttgttccctttttacaaaa c.*4440
. . . . . . g.400495
gtactagtaaaaatctgagtcatacaaaagagcaggtcaggtgtcactaataacagttta c.*4500
. . . . . . g.400555
cctcagcttcatctccatgaaggttttacttctaatcccagagtctcatgtttatgtatt c.*4560
. . . . . . g.400615
acaagagtgtatgaaagctgggcatggtggcacacaccagtagtcccagctactcggtcg c.*4620
. . . . . . g.400675
ggggttgaggtgagaggatcgcttgaactcaggagtttgaatccagcctggtcaatgtag c.*4680
. . . . . . g.400735
cgagatcctatctcttaaaaaaaaaaaaaaaaggggggaacagtgtatgatcctattatt c.*4740
. . . . . . g.400795
tgggtttgtgtgtgatcgaatacatggtatatagttcatggaaaatttaagctcagcaag c.*4800
. . . . . . g.400855
gaaagaaaatggccagcttcctgtcttaggaagacaatttactttttggcatctgtttgg c.*4860
. . . . . . g.400915
ttgaaagtttgcctttgatccagattctttcggatgtcagggatattcacattgacatgt c.*4920
. . . . . . g.400975
ctttttagtgttccaggagattttagtttgaatagtacaattttttcttcttacaacaaa c.*4980
. . . . . . g.401035
acttagaacggcttctaacttatttcttcatggccaagaaactaccctaacttatctcga c.*5040
. . . . . . g.401095
taaatatttagttctgtcttatttctaatgtgtaaaacaggttttaaaaataatatatag c.*5100
. . . . . . g.401155
attttgcatttataaaaaaagatttaatttatagaaccaaacttgaacatatgtttaatt c.*5160
. . . . . . g.401215
tagcctaatcagaaggttacagaaaaagttgctgtaaagatagaataaaggtattgtact c.*5220
. . . . . . g.401275
ggtctgtttttactgaagttccagaatgtgaggttattagagtcttggcttattgtgtca c.*5280
. . . . . . g.401335
tgttttcctgaatgcttcctttgaagatgagcacacaccaaagcatcctttgatattatg c.*5340
. . . . g.401381
tatggattaaattaacactgctttccaaatgtggtccacatagaaa c.*5386
(downstream sequence)
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