(used for variant description)
(last modified January 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015465.4 in the GEMIN5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering GEMIN5 transcript NM_015465.4.
(upstream sequence)
. . g.5023
accccgccccgctccctacctaa c.-61
. . . . . . g.5083
ggcgtgaggctacgagcggtcggctgtggcagcttctcttgtctctgacggcttgtagtt c.-1
. . . . . . g.5143
ATGGGGCAGGAGCCGCGGACGCTGCCGCCCTCCCCCAACTGGTACTGCGCCCGCTGCAGC c.60
M G Q E P R T L P P S P N W Y C A R C S p.20
. . . . . . g.5203
GATGCCGTGCCCGGGGGCCTCTTTGGCTTCGCCGCGCGGACCTCCGTCTTCCTTGTCCGC c.120
D A V P G G L F G F A A R T S V F L V R p.40
. . . . | 02 . . g.6045
GTGGGCCCGGGCGCAGGCGAGAGTCCAGGGACACCCCCGTTTCGAG | TCATAGGAGAGTTG c.180
V G P G A G E S P G T P P F R V | I G E L p.60
. . . . . . g.6105
GTGGGACACACCGAAAGGGTCTCTGGCTTCACATTTTCTCATCACCCTGGTCAGTACAAC c.240
V G H T E R V S G F T F S H H P G Q Y N p.80
. . . . . . g.6165
CTCTGTGCCACCAGCTCCGACGATGGGACTGTGAAAATATGGGATGTAGAGACAAAAACA c.300
L C A T S S D D G T V K I W D V E T K T p.100
. . | 03. . . . g.7227
GTTGTGACAGAACATGCACTCCATCAG | CATACGATATCAACATTACATTGGTCTCCTCGA c.360
V V T E H A L H Q | H T I S T L H W S P R p.120
. . . . . . g.7287
GTAAAGGACTTAATAGTATCTGGGGATGAAAAAGGAGTAGTTTTCTGTTACTGGTTTAAC c.420
V K D L I V S G D E K G V V F C Y W F N p.140
. . . . . . g.7347
AGAAATGACAGCCAGCACCTCTTTATAGAACCCAGGACAATTTTCTGTCTTACTTGTTCA c.480
R N D S Q H L F I E P R T I F C L T C S p.160
. . | 04 . . . g.10997
CCTCATCATGAAGATTTAGTAGCCATTGG | CTACAAGGATGGCATAGTGGTGATAATTGAC c.540
P H H E D L V A I G | Y K D G I V V I I D p.180
. . . . . . g.11057
ATCAGTAAGAAAGGAGAAGTTATTCATAGGCTTCGAGGCCATGATGATGAAATCCACTCC c.600
I S K K G E V I H R L R G H D D E I H S p.200
. . . . . . g.11117
ATAGCCTGGTGTCCCCTGCCTGGTGAAGATTGTTTATCTATAAACCAAGAGGAAACTTCA c.660
I A W C P L P G E D C L S I N Q E E T S p.220
| 05 . . . . . . g.11698
G | AAGAAGCTGAAATTACCAACGGGAATGCTGTAGCACAAGCTCCAGTAACAAAAGGTTGC c.720
E | E A E I T N G N A V A Q A P V T K G C p.240
. . . . . . g.11758
TACTTAGCCACTGGAAGCAAAGATCAAACCATTCGAATCTGGAGCTGTTCTAGAGGCCGA c.780
Y L A T G S K D Q T I R I W S C S R G R p.260
| 06 . . . . . . g.14616
G | GGGTGATGATTTTGAAATTGCCCTTTCTGAAGAGAAGAGGAGGGGGTATAGACCCAACT c.840
G | V M I L K L P F L K R R G G G I D P T p.280
. . . . . . g.14676
GTTAAAGAGCGCCTTTGGTTGACACTCCATTGGCCCAGCAATCAACCAACACAGCTGGTA c.900
V K E R L W L T L H W P S N Q P T Q L V p.300
. | 07 . . . . . g.15712
TCTAGCTGTTTTGG | AGGTGAACTGTTGCAATGGGATCTCACTCAATCTTGGAGACGGAAA c.960
S S C F G | G E L L Q W D L T Q S W R R K p.320
. . . . . . g.15772
TACACCCTCTTCAGTGCCTCATCAGAAGGGCAAAATCATTCAAGAATTGTGTTTAATTTA c.1020
Y T L F S A S S E G Q N H S R I V F N L p.340
. . . . . . g.15832
TGTCCTTTACAAACAGAGGATGACAAACAGCTATTACTTTCTACATCAATGGATAGAGAT c.1080
C P L Q T E D D K Q L L L S T S M D R D p.360
| 08 . . . . . . g.17202
| GTAAAATGTTGGGACATAGCCACCTTGGAGTGCAGCTGGACCCTTCCTTCCCTTGGTGGG c.1140
| V K C W D I A T L E C S W T L P S L G G p.380
. . . . . . g.17262
TTTGCATACAGCCTGGCTTTCTCTTCTGTGGACATAGGCTCTTTGGCCATAGGTGTTGGG c.1200
F A Y S L A F S S V D I G S L A I G V G p.400
. . . . . . g.17322
GATGGCATGATCCGTGTATGGAATACACTCTCCATAAAGAACAACTATGATGTGAAAAAT c.1260
D G M I R V W N T L S I K N N Y D V K N p.420
. . . | 09 . . . g.18689
TTTTGGCAAGGCGTGAAGTCCAAGGTTACAGCG | CTGTGCTGGCACCCAACCAAGGAAGGT c.1320
F W Q G V K S K V T A | L C W H P T K E G p.440
. . . . . | 10 g.21792
TGCTTAGCTTTTGGAACTGATGATGGAAAAGTGGGATTGTATGACACCTACTCCAACAA | G c.1380
C L A F G T D D G K V G L Y D T Y S N K | p.460
. . . . . . g.21852
CCTCCACAGATTTCTAGCACATATCATAAGAAGACTGTATATACTTTAGCCTGGGGGCCA c.1440
P P Q I S S T Y H K K T V Y T L A W G P p.480
. . | 11 . . . . g.23151
CCAGTACCCCCCATGTCACTTG | GAGGAGAAGGAGACAGACCTTCCCTTGCTTTATACAGC c.1500
P V P P M S L G | G E G D R P S L A L Y S p.500
. . . . . . g.23211
TGTGGAGGAGAAGGGATTGTCTTACAGCATAATCCCTGGAAGCTTAGTGGAGAAGCCTTT c.1560
C G G E G I V L Q H N P W K L S G E A F p.520
. . . | 12 . . g.25233
GACATCAACAAACTCATCAGGGACACCAATTCAATCAAA | TACAAATTGCCTGTACACACA c.1620
D I N K L I R D T N S I K | Y K L P V H T p.540
. . . . . | 13 . g.26044
GAGATAAGTTGGAAAGCAGATGGCAAAATCATGGCTCTTGGCAATGAAGATGG | ATCAATA c.1680
E I S W K A D G K I M A L G N E D G | S I p.560
. . . . . . g.26104
GAAATATTTCAGATTCCCAACCTGAAACTGATCTGTACTATCCAACAGCATCACAAGCTT c.1740
E I F Q I P N L K L I C T I Q Q H H K L p.580
. . . . . . g.26164
GTGAATACCATTAGCTGGCATCATGAGCATGGCAGCCAGCCAGAATTGAGCTATCTGATG c.1800
V N T I S W H H E H G S Q P E L S Y L M p.600
. . . . . | 14 . g.30183
GCCTCTGGCTCCAACAATGCAGTCATTTACGTGCACAACCTGAAGACTGTCATAG | AGAGC c.1860
A S G S N N A V I Y V H N L K T V I E | S p.620
. . . . . . g.30243
AGCCCTGAGTCTCCAGTGACCATTACAGAGCCCTACCGGACCCTCTCAGGGCATACGGCC c.1920
S P E S P V T I T E P Y R T L S G H T A p.640
. . . . . . g.30303
AAGATTACCAGTGTGGCGTGGAGCCCACATCATGATGGAAGGCTGGTATCTGCTTCCTAT c.1980
K I T S V A W S P H H D G R L V S A S Y p.660
. | 15 . . . . . g.31363
GATGGTACAGCCCAG | GTGTGGGATGCTCTCCGGGAAGAGCCCCTGTGCAATTTCCGAGGA c.2040
D G T A Q | V W D A L R E E P L C N F R G p.680
. . . . . . g.31423
CATCGAGGTCGACTGCTTTGTGTGGCATGGTCTCCTTTGGATCCAGACTGCATCTATTCA c.2100
H R G R L L C V A W S P L D P D C I Y S p.700
. . . . . . g.31483
GGGGCAGATGACTTTTGTGTGCACAAGTGGCTCACTTCCATGCAAGATCATTCCCGGCCT c.2160
G A D D F C V H K W L T S M Q D H S R P p.720
| 16. . . . . . g.35451
CCTCAAG | GCAAAAAAAGTATTGAATTGGAGAAAAAACGGCTCTCTCAACCTAAGGCAAAG c.2220
P Q G | K K S I E L E K K R L S Q P K A K p.740
. . . . . . g.35511
CCCAAAAAGAAGAAAAAGCCCACCTTGAGAACTCCTGTAAAGCTGGAATCGATTGATGGA c.2280
P K K K K K P T L R T P V K L E S I D G p.760
. . . . . . g.35571
AATGAAGAAGAAAGCATGAAGGAGAACTCAGGACCTGTTGAGAATGGTGTGTCAGACCAA c.2340
N E E E S M K E N S G P V E N G V S D Q p.780
. . . . . | 17 . g.37745
GAAGGGGAGGAGCAAGCACGGGAGCCGGAATTACCCTGTGGCCTTGCTCCAGCGG | TTTCT c.2400
E G E E Q A R E P E L P C G L A P A V | S p.800
. . . . . . g.37805
AGAGAACCAGTTATCTGCACTCCAGTTTCCTCAGGCTTTGAAAAGTCAAAAGTCACCATT c.2460
R E P V I C T P V S S G F E K S K V T I p.820
. . . . | 18 . g.38598
AATAACAAAGTCATTTTACTGAAAAAGGAGCCACCAAAAGAGAAGCCAG | AAACCTTAATC c.2520
N N K V I L L K K E P P K E K P E | T L I p.840
. . . . . . g.38658
AAGAAGAGAAAAGCTCGTTCCTTGCTTCCCCTGAGTACAAGCCTGGACCACAGATCCAAA c.2580
K K R K A R S L L P L S T S L D H R S K p.860
. . . . . | 19 . g.40049
GAGGAGCTTCATCAGGACTGTTTGGTACTAGCAACTGCAAAGCACTCCAGAG | AGCTGAAT c.2640
E E L H Q D C L V L A T A K H S R E | L N p.880
. . . . . . g.40109
GAAGATGTGTCTGCTGATGTTGAGGAAAGATTTCATCTGGGGCTTTTCACAGACAGGGCT c.2700
E D V S A D V E E R F H L G L F T D R A p.900
. . | 20 . . . g.40572
ACCCTGTATAGAATGATTGATATTGAAG | GAAAAGGTCACTTAGAAAATGGCCACCCTGAG c.2760
T L Y R M I D I E G | K G H L E N G H P E p.920
. . . . . . g.40632
TTATTTCACCAGCTTATGCTTTGGAAAGGAGATCTCAAAGGTGTTCTCCAGACTGCAGCA c.2820
L F H Q L M L W K G D L K G V L Q T A A p.940
. . . . | 21 . . g.41744
GAAAGAGGGGAGCTGACAGACAACCTTGTGGCTATGGCACCAGCAG | CTGGCTACCATGTG c.2880
E R G E L T D N L V A M A P A A | G Y H V p.960
. . . . . . g.41804
TGGCTATGGGCTGTGGAAGCTTTTGCCAAACAGCTGTGTTTTCAGGATCAGTATGTCAAG c.2940
W L W A V E A F A K Q L C F Q D Q Y V K p.980
. . . . . . g.41864
GCTGCTTCTCACCTACTTTCCATCCACAAAGTGTATGAAGCGGTGGAGCTGCTCAAGTCA c.3000
A A S H L L S I H K V Y E A V E L L K S p.1000
. | 22 . . . . . g.43952
AACCATTTTTACAG | GGAAGCTATTGCGATTGCCAAGGCCCGGCTGCGCCCGGAGGACCCA c.3060
N H F Y R | E A I A I A K A R L R P E D P p.1020
. . . . . . g.44012
GTCCTGAAGGACTTGTACCTCAGCTGGGGAACCGTCCTAGAAAGAGATGGCCACTATGCT c.3120
V L K D L Y L S W G T V L E R D G H Y A p.1040
. | 23 . . . . . g.44612
GTAGCTGCCAAATG | CTATTTAGGGGCCACTTGTGCTTATGATGCAGCCAAAGTTTTGGCC c.3180
V A A K C | Y L G A T C A Y D A A K V L A p.1060
. . . . . . g.44672
AAAAAGGGGGATGCGGCATCACTTAGAACGGCTGCAGAGTTGGCTGCCATCGTAGGAGAG c.3240
K K G D A A S L R T A A E L A A I V G E p.1080
. . . . . . g.44732
GATGAGTTGTCTGCTTCCCTGGCTCTCAGATGTGCCCAAGAGCTGCTTCTGGCCAACAAC c.3300
D E L S A S L A L R C A Q E L L L A N N p.1100
. . . . | 24 . . g.46888
TGGGTGGGAGCCCAGGAAGCCCTGCAGCTGCATGAAAGTCTACAG | GGTCAGAGATTGGTG c.3360
W V G A Q E A L Q L H E S L Q | G Q R L V p.1120
. . . . . . g.46948
TTTTGCCTTCTGGAGCTACTGTCCAGGCATCTGGAGGAAAAGCAGCTTTCAGAGGGCAAA c.3420
F C L L E L L S R H L E E K Q L S E G K p.1140
. . . . . . g.47008
AGCTCCTCCTCTTACCACACTTGGAACACGGGCACCGAAGGGCCTTTCGTGGAGAGGGTG c.3480
S S S S Y H T W N T G T E G P F V E R V p.1160
. . . . . . g.47068
ACTGCAGTGTGGAAGAGCATCTTCAGCCTTGACACCCCTGAGCAGTATCAGGAAGCCTTT c.3540
T A V W K S I F S L D T P E Q Y Q E A F p.1180
. . . . . | 25. g.50670
CAGAAGCTGCAGAACATCAAGTACCCATCTGCTACAAATAACACACCTGCCAAACAG | CTC c.3600
Q K L Q N I K Y P S A T N N T P A K Q | L p.1200
. . . . . . g.50730
CTGCTTCACATTTGCCATGACTTGACCCTGGCAGTGCTGAGCCAACAGATGGCCTCCTGG c.3660
L L H I C H D L T L A V L S Q Q M A S W p.1220
. . . . . . g.50790
GACGAGGCTGTGCAGGCGCTCCTTCGGGCGGTGGTCCGGAGCTATGACTCAGGGAGCTTC c.3720
D E A V Q A L L R A V V R S Y D S G S F p.1240
. . . . | 26 . . g.51494
ACCATCATGCAGGAAGTGTACTCAGCCTTTCTCCCTGACG | GCTGTGACCACCTAAGAGAC c.3780
T I M Q E V Y S A F L P D G | C D H L R D p.1260
. . . . . . g.51554
AAGTTGGGGGACCATCAATCCCCTGCCACACCAGCTTTCAAAAGTTTGGAGGCCTTTTTT c.3840
K L G D H Q S P A T P A F K S L E A F F p.1280
. . . . . . g.51614
CTTTATGGGCGTCTGTATGAATTCTGGTGGTCTCTCTCCAGACCTTGCCCAAATTCCAGT c.3900
L Y G R L Y E F W W S L S R P C P N S S p.1300
. . . . . . g.51674
GTCTGGGTAAGGGCTGGTCACAGAACACTCTCTGTTGAGCCAAGCCAGCAGTTAGACACT c.3960
V W V R A G H R T L S V E P S Q Q L D T p.1320
. . . . . . g.51734
GCCAGCACTGAAGAAACGGACCCTGAAACTTCTCAGCCAGAGCCAAACAGGCCTTCAGAA c.4020
A S T E E T D P E T S Q P E P N R P S E p.1340
. . . . . . g.51794
CTAGACTTGAGACTCACAGAAGAAGGTGAGCGAATGCTGAGTACTTTTAAGGAGCTCTTT c.4080
L D L R L T E E G E R M L S T F K E L F p.1360
. . . . . . g.51854
TCAGAAAAGCATGCCAGTCTCCAAAACTCACAGAGAACTGTTGCTGAAGTCCAAGAGACC c.4140
S E K H A S L Q N S Q R T V A E V Q E T p.1380
. . . . . . g.51914
TTGGCAGAAATGATCCGACAACACCAAAAGAGTCAACTCTGTAAATCCACAGCAAATGGT c.4200
L A E M I R Q H Q K S Q L C K S T A N G p.1400
. . . . . . g.51974
CCTGATAAGAATGAACCGGAAGTAGAAGCAGAGCAGCCCCTCTGCAGTTCTCAGAGCCAG c.4260
P D K N E P E V E A E Q P L C S S Q S Q p.1420
| 27 . . . . . . g.53857
TG | TAAAGAAGAAAAAAATGAGCCACTTTCTCTGCCTGAGTTAACCAAAAGGCTTACCGAG c.4320
C | K E E K N E P L S L P E L T K R L T E p.1440
. . . | 28 . . g.54860
GCAAATCAGAGAATGGCGAAATTTCCTGAGAGCATTAAG | GCCTGGCCCTTCCCAGATGTG c.4380
A N Q R M A K F P E S I K | A W P F P D V p.1460
. . . . . . g.54920
CTGGAGTGCTGCCTCGTCCTGCTTCTCATCAGGTCCCACTTTCCTGGCTGTCTGGCCCAG c.4440
L E C C L V L L L I R S H F P G C L A Q p.1480
. . . . . . g.54980
GAAATGCAGCAGCAGGCCCAAGAGCTCCTTCAGAAATACGGCAACACGAAAACTTACAGA c.4500
E M Q Q Q A Q E L L Q K Y G N T K T Y R p.1500
. . g.55007
AGACACTGCCAGACCTTCTGTATGTGA c.4527
R H C Q T F C M X p.1508
. . . . . . g.55067
attttcacacaccttgaagaaactgccaaattgaaaatgtttgacatctttcacctctgc c.*60
. . . . . . g.55127
agttatgcctcaccagacattcactctggtccctagatgtttttgcagtaatccaaaaga c.*120
. . . . . . g.55187
atacaaacaaggattaagtttgaatcaaccctgcctacccatagacaacggtggatctga c.*180
. . . . . . g.55247
ctttagactcaattgtggtctcctactggagggaagatcatgaaaagcccacagtagtta c.*240
. . . . . . g.55307
ttcagaactaacacctgcagagtgttggtcatctctacagccttaggcaggtttcaccca c.*300
. . . . . . g.55367
aagaggagaaacttctgtcgtcacccaaagtgttacatgcttaaaacacaagctaccttt c.*360
. . . . . . g.55427
gtaaatacttcatctgatcagaagtgtgtcatgcttgtttgagatggagttgctgcattt c.*420
. . . . . . g.55487
taggactattgatacctttttttaattgtttttataatatttaatttgaaagaggagacc c.*480
. . . . . . g.55547
cttctctctctactctttcatagactgaagtttgaatatgaaataggccttaaccatcat c.*540
. . . . . . g.55607
gttgactctcctgtcagaattttaggttggaaatttggttttattctttcatgtaattgc c.*600
. . . . . . g.55667
ttatttgaacagatcacttactaaagctttagaagaagtgattcaaatgtgtgttttccc c.*660
. . . . . . g.55727
ttcagttttataacaaatggattgatggcagtcaaatagctcaggaataaattactgttt c.*720
. . . . . . g.55787
caatggttcttaaactttcttggatcataggatccttttgagaatcagattaaagccaaa c.*780
. g.55801
gatactctttggag c.*794
(downstream sequence)
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