(used for variant description)
(last modified January 18, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018100.3 in the EFHC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016760.1, covering EFHC1 transcript NM_018100.3.
(upstream sequence)
. . . g.5035
gcggcccacttaccgcgagaacgcggagtcctgcg c.-181
. . . . . . g.5095
gatggcgcacgcgcaaacctcctgtgatgcctgcgcctcctggccccgccttccgctcgt c.-121
. . . . . . g.5155
gggagttccggatgtttagcgttaccatggatcctggaggtgcccgcgaacactgcttgt c.-61
. . . . . . g.5215
cgcctgggcaaccggagaggacgaagcaggacctaggtggcggcggtggtaccggctgca c.-1
. . . . . . g.5275
ATGGTGTCCAATCCCGTGCATGGCTTGCCCTTTCTTCCGGGCACGTCCTTTAAGGACTCT c.60
M V S N P V H G L P F L P G T S F K D S p.20
| 02 . . . . . . g.8807
ACG | AAAACAGCCTTCCACAGAAGTCAGACGCTGAGCTACAGGAACGGCTATGCAATTGTT c.120
T | K T A F H R S Q T L S Y R N G Y A I V p.40
. . . . . . g.8867
CGACGTCCAACAGTTGGGATAGGCGGAGACCGGCTCCAGTTCAACCAGCTGTCCCAGGCT c.180
R R P T V G I G G D R L Q F N Q L S Q A p.60
. . . . . . g.8927
GAGCTGGATGAGTTGGCCAGTAAGGCACCAGTCTTAACTTATGGCCAACCTAAACAAGCC c.240
E L D E L A S K A P V L T Y G Q P K Q A p.80
. . . . | 03 . . g.23123
CCACCTGCGGATTTTATTCCTGCGCATGTGGCCTTTGACAAAAAG | GTACTGAAATTTGAT c.300
P P A D F I P A H V A F D K K | V L K F D p.100
. . . . . . g.23183
GCCTATTTCCAAGAAGATGTTCCTATGTCAACTGAGGAACAGTATAGGATCCGTCAGGTG c.360
A Y F Q E D V P M S T E E Q Y R I R Q V p.120
. . . . . . g.23243
AACATTTACTATTATCTAGAAGATGACAGCATGTCTGTCATAGAGCCTGTTGTAGAAAAT c.420
N I Y Y Y L E D D S M S V I E P V V E N p.140
. . . . . . g.23303
TCTGGAATCCTTCAAGGCAAGTTAATAAAACGCCAGCGGCTAGCCAAGAATGACCGGGGT c.480
S G I L Q G K L I K R Q R L A K N D R G p.160
. . . . . . g.23363
GACCATTACCATTGGAAAGACCTAAATCGAGGAATAAACATCACAATTTATGGCAAAACT c.540
D H Y H W K D L N R G I N I T I Y G K T p.180
. . . | 04 . . . g.37519
TTCCGCGTTGTTGACTGTGACCAATTCACACAG | GTATTTTTAGAAAGCCAAGGAATTGAG c.600
F R V V D C D Q F T Q | V F L E S Q G I E p.200
. . . . . . g.37579
TTAAATCCACCAGAGAAGATGGCTCTTGATCCTTACACTGAACTCCGAAAACAGCCTCTT c.660
L N P P E K M A L D P Y T E L R K Q P L p.220
. . . . . . g.37639
CGTAAGTATGTCACCCCATCAGACTTTGATCAACTCAAGCAATTTCTCACCTTTGACAAA c.720
R K Y V T P S D F D Q L K Q F L T F D K p.240
| 05 . . . . . . g.38956
CAG | GTCCTTCGATTCTATGCAATCTGGGATGATACAGACAGCATGTATGGTGAATGTCGG c.780
Q | V L R F Y A I W D D T D S M Y G E C R p.260
. . . . . . g.39016
ACCTACATCATTCATTACTATCTTATGGATGATACGGTGGAAATTCGAGAGGTCCACGAA c.840
T Y I I H Y Y L M D D T V E I R E V H E p.280
. . . . . . g.39076
CGGAATGATGGGAGAGATCCTTTCCCACTCCTAATGAACCGCCAGCGTGTGCCCAAAGTT c.900
R N D G R D P F P L L M N R Q R V P K V p.300
. | 06 . . . . . g.49743
TTGGTGGAAAATGCAA | AGAACTTCCCTCAGTGTGTGCTAGAAATCTCTGACCAAGAAGTG c.960
L V E N A K | N F P Q C V L E I S D Q E V p.320
. . . . . . g.49803
TTGGAATGGTATACTGCTAAAGACTTCATTGTTGGGAAGTCACTCACTATCCTTGGGAGA c.1020
L E W Y T A K D F I V G K S L T I L G R p.340
. . . . . . g.49863
ACTTTCTTCATTTATGATTGTGATCCATTTACTCGACGGTATTACAAAGAGAAGTTTGGA c.1080
T F F I Y D C D P F T R R Y Y K E K F G p.360
. . . . . | 07. g.54140
ATCACTGATTTACCACGTATTGATGTGAGCAAGCGGGAACCACCTCCAGTAAAACAG | GAG c.1140
I T D L P R I D V S K R E P P P V K Q | E p.380
. . . . . . g.54200
TTGCCTCCTTATAACGGTTTTGGACTAGTGGAAGATTCTGCTCAGAATTGTTTTGCTCTC c.1200
L P P Y N G F G L V E D S A Q N C F A L p.400
. . . . . . g.54260
ATTCCAAAAGCTCCAAAAAAAGACGTTATTAAAATGCTGGTGAATGATAACAAGGTGCTT c.1260
I P K A P K K D V I K M L V N D N K V L p.420
. | 08 . . . . g.63883
CGTTATTTGGCTGTACTG | GAATCCCCCATCCCAGAAGACAAAGACCGCAGATTTGTCTTC c.1320
R Y L A V L | E S P I P E D K D R R F V F p.440
. . . . . . g.63943
TCTTACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCCTCCTGTTCGCAATTCTGGT c.1380
S Y F L A T D M I S I F E P P V R N S G p.460
. . . . . . g.64003
ATCATTGGGGGCAAGTACCTTGGCAGGACTAAAGTTGTTAAACCATACTCTACAGTGGAC c.1440
I I G G K Y L G R T K V V K P Y S T V D p.480
. . . . . | 09 . g.64452
AACCCTGTCTACTATGGCCCCAGTGACTTCTTCATTGGTGCTGTGATTGAAG | TGTTTGGT c.1500
N P V Y Y G P S D F F I G A V I E V | F G p.500
. . . . . . g.64512
CACCGGTTCATCATCCTTGATACAGACGAGTATGTTTTGAAATACATGGAGAGCAACGCT c.1560
H R F I I L D T D E Y V L K Y M E S N A p.520
. . . . . . g.64572
GCCCAGTATTCACCAGAAGCACTCGCGTCAATTCAGAACCATGTCCGAAAGCGAGAAGCG c.1620
A Q Y S P E A L A S I Q N H V R K R E A p.540
. . | 10 . . . . g.74984
CCTGCTCCAGAAGCAGAAAG | CAAGCAAACTGAAAAGGATCCAGGCGTGCAGGAATTGGAA c.1680
P A P E A E S | K Q T E K D P G V Q E L E p.560
. . . . . . g.75044
GCATTAATAGACACAATTCAGAAGCAACTGAAAGATCACTCATGCAAAGACAACATTCGT c.1740
A L I D T I Q K Q L K D H S C K D N I R p.580
. . . . . . g.75104
GAGGCATTTCAAATTTATGACAAGGAAGCTTCAGGATATGTGGACAGAGACATGTTCTTT c.1800
E A F Q I Y D K E A S G Y V D R D M F F p.600
. . . . . | 11 . g.77083
AAAATCTGTGAATCGCTTAACGTCCCAGTGGATGACTCCTTGGTTAAGGAG | TTAATCAGG c.1860
K I C E S L N V P V D D S L V K E | L I R p.620
. . . . . . g.77143
ATGTGCTCTCATGGAGAAGGCAAAATTAACTACTATAACTTTGTTCGTGCTTTCTCAAAC c.1920
M C S H G E G K I N Y Y N F V R A F S N p.640
g.77146
TGA c.1923
X p.640
. . . . . . g.77206
cctgctgatgagaaaatgcaagacaatttttgatactggaactatgctttgaaatacacc c.*60
. . . . . . g.77266
ttacactcttcatagaggcatttacagggttcctgaagttttatttctgttttggttctt c.*120
. . . . . . g.77326
ctttcactcctactgaagtcgaaactaaattggatctaataggatctaagattggtgcct c.*180
. . . . . . g.77386
tatttagggtgataggggtatagcaatgtctaattttgtgtgtcaaattgacttggccac c.*240
. . . . . . g.77446
agggggcccaaatatttcctttctttctttttaaaaaaataaatttttttagagatggga c.*300
. . . . . . g.77506
tctcactctgtcatacaggctggagtgtggtggcactatcctagttctatgaagcctcag c.*360
. . . . . . g.77566
actcctgggctcaagtgatcctcccacttcaacctccccagtagctgggacaacaggctc c.*420
. . . . . . g.77626
aagccaccatgcccagctaatttttaaaattattttgtagagacaaggtcttgctaggtt c.*480
. . . . . . g.77686
gcctgaacttgtctcaaactcatgagctccagaaattctcccacctcagcctccaaaagt c.*540
. . . . . . g.77746
gctgggattataggcatgagccactgtgcccagcctcagatatttcattattctgggggt c.*600
. . . . . . g.77806
ttctctgaaggtatttttcgatgagataaacatttgaatcagaagactaagtaaaacaga c.*660
. . . . . . g.77866
tagtcctccctaatgtgggtgggcctcctccaatcatttgaagacatgagtagaataaaa c.*720
. . . . . . g.77926
aggctgacctttccccaggtaagagaattcctcctgcctgactggcttcaaattggaaca c.*780
. . . . . . g.77986
tcagccttttcttgccttcagacacaaatggaaacatcagctgttggtctggagcctgct c.*840
. . . . . . g.78046
gaccttcagactggacctaaaccatcagctctcctaagtcataggcctttggattcagac c.*900
. . . . . . g.78106
tggaattatacctttagctctcctgggtctccagcttgccaatttaccctgcagatcttg c.*960
. . . . . . g.78166
ggacttgtaagccttcataattgtgtgagcaatttcttataactctctctttctctctct c.*1020
. . . . . . g.78226
ctacatatatatatatatatatattttatatgtacacattcatacacacacacgcttata c.*1080
. . . . . . g.78286
tgtatacatatagtatgtatatgtgtatatatattatgtatatacatatatgtgcacaca c.*1140
. . . . . . g.78346
tctctactaaaaatagaaaaattagccaggtgtggtggcgtgtgcctgtagtcccagcca c.*1200
. . . . . . g.78406
ctcgggaggcttaaatgggagaatcacttgaaccctggaggcagaggttgcagtgagcca c.*1260
. . . . . . g.78466
agaccacgccactgcactccatccagcctgggtgacagagcaagactccatctcaaaaaa c.*1320
. . . . . . g.78526
aaaaaggttagaaaaatgctgcttttagagagcctggccttgagagaggaaggaaagact c.*1380
. . . . . . g.78586
agttgcagttactattctctggtgagctctgactggctttttacaaacagggcttctctt c.*1440
. . . . . . g.78646
tggttgaagtcagccactaagttcatctttaaacatgctatctcaaattccccgaagcca c.*1500
. . . . . . g.78706
cccaaaatgtggtatgaatgaggatagagttacacagaattcagactgctttgccctctc c.*1560
. . . . . . g.78766
agaacttctagggaacttcccttggtgtttccttccctaacgagctcagccacttgtaac c.*1620
. . . . . . g.78826
cagcttattgaaagggctgtgaatgtattatgttgattccttttctgttccaggttatta c.*1680
. . . . . . g.78886
tcttgggaataacccatgttttgttttgttttaccctcagtcgctcataactatttaaaa c.*1740
. . . . . . g.78946
cagtatctctttcaagtacagatgctcctctacttatggggctatgtctcaataaactca c.*1800
. . . . . . g.79006
cgtaagtaaaaaatatcacaagttgaaaacacatttaataaccctgataagcccattgta c.*1860
. . . . . . g.79066
aagtaggcaaataagttggaccattgaaagttggggactatctgtattttagaagttttt c.*1920
. . . . . . g.79126
tcagcttaaaaattaccaagctctatcctacttggcccagctcagtccttcccccaggct c.*1980
. . . . . . g.79186
tagaagcctgtggtaaagagtgtgtgtatactggggtgatgatagtggtttcttcttact c.*2040
. . . . . . g.79246
cccttctttctgtcttctgctccctttgttcctattcagccatgctgctgtttctagccc c.*2100
. . . . . . g.79306
atgtaggctctgggaaaggttaagcgggtagaaaccagagaaaaagggcaaagtcttatt c.*2160
. . . . . . g.79366
tctgtggctagtaatgtcgtaatgtggggccaggtctgagtgacatgtgccgaaaggctg c.*2220
. . . . . . g.79426
actctttctcccagagcaccttttctctctttttggattcagggggtacatgtgcaggtt c.*2280
. . . . . . g.79486
tgttacatgagtatattgcacccaggtagtgagcatagtgcccagtaagtagtttttcca c.*2340
. . . . . . g.79546
cacataccccctccttcccttcccactctggtagtccccagtgtctattgttcccatcat c.*2400
. . . . . . g.79606
tatgtctatgtgtattcaatgtttagctcccacttagaagtaagaacatgcaatatttgg c.*2460
. . . . . . g.79666
tttcctattcctgcatcaattcactttaggataatggcctccagctgcatccatgttgct c.*2520
. . . . . . g.79726
gcagaatacatgatttcattttttatggctgcgtagtattccatggtgtagatatacttc c.*2580
. . . . . . g.79786
atttaaaaaatctaatccaccattgattggcacctaggttgattccatgtcctttgctca c.*2640
. . . . . . g.79846
gagccccgttttggtgagttcttagaactctttccaaccggaaactgcccagtgcaccac c.*2700
. . . . . . g.79906
tctcagatggacgggacccagtctgtacctgatcaccccggctctaatggtatggtctcc c.*2760
. . . . . . g.79966
aaggctccttctgatcttcccaggaggccctttcaggctgacacaccttccagggtgtgc c.*2820
. . . . . . g.80026
actctcgccatgttctcacccagatggctctcttggctgtgtaattaggcagctcaatcc c.*2880
. . . . . . g.80086
ctttcctttagactgtttcaggggagaaccaggtaccccaaatcttatgctctccaaact c.*2940
. . . . . . g.80146
ccaggggacagacacatgtcaaaccctgagtcttttaaagtataccctcacttagcttgc c.*3000
. . . . . . g.80206
agacccaaggcactccagcccctttcaagaagcttgcactttctgatattttctccatca c.*3060
. . . . . . g.80266
ctcttgcctcctgtggtagaggagctttgggctactccttaacaaatcattcatggatcg c.*3120
. . . . . . g.80326
gcagcaaatctgcaacatatggatatatttgccaatttttgtcctcagctttgggtctca c.*3180
. . . . . . g.80386
gccaaaatggagatttaggaaagtctcatttagcatcctctagcctgcttttggctgttt c.*3240
. . . . . . g.80446
tgttttgtttttgtgtttgttttttagagacagggtcttactctgttgccagactggaat c.*3300
. . . . . . g.80506
gcggtggtgtgaccatagctcactgcagcctcaaactcctgggctcatgcaatcctcctg c.*3360
. . . . . . g.80566
cctcagccttctgagtagctaggcctgtagtctcagagggaactgtcttcaataaagttg c.*3420
. . g.80590
gcactgtccacatacactccttaa c.*3444
(downstream sequence)
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