(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_024996.5 in the GFM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008441.1, covering GFM1 transcript NM_024996.5.
(upstream sequence)
. . . . g.5047
ctcttacaacattggctgccggcgtgactttgaccgcttcccggtgc c.-61
. . . . . . g.5107
gttaccggcagctgaacccacccggcgccacgggactttgacgcgtgctctgcgcttgcc c.-1
. . . . . . g.5167
ATGAGACTCCTGGGAGCTGCAGCCGTCGCGGCTCTGGGGCGCGGAAGGGCCCCCGCCTCC c.60
M R L L G A A A V A A L G R G R A P A S p.20
. . | 02 . . . . g.6140
CTAGGCTGGCAGAGGAAGCAG | GTTAATTGGAAGGCCTGCCGATGGTCTTCATCAGGGGTG c.120
L G W Q R K Q | V N W K A C R W S S S G V p.40
. . . . . . g.6200
ATTCCTAATGAAAAAATACGAAATATTGGAATCTCAGCTCACATTGATTCTGGGAAAACT c.180
I P N E K I R N I G I S A H I D S G K T p.60
. . . . . | 03 . g.6643
ACATTAACAGAACGAGTCCTTTACTACACTGGCAGAATTGCAAAGATGCATGAG | GTGAAA c.240
T L T E R V L Y Y T G R I A K M H E | V K p.80
. . . . . . g.6703
GGTAAAGATGGAGTTGGTGCTGTCATGGATTCCATGGAACTAGAGAGACAAAGAGGAATC c.300
G K D G V G A V M D S M E L E R Q R G I p.100
. . . . . . g.6763
ACTATTCAGTCAGCAGCCACTTACACCATGTGGAAAGATGTCAATATTAACATTATAGAT c.360
T I Q S A A T Y T M W K D V N I N I I D p.120
| 04. . . . . . g.7268
ACTCCTG | GGCATGTGGACTTCACAATAGAAGTGGAAAGGGCCCTGAGAGTGTTGGATGGT c.420
T P G | H V D F T I E V E R A L R V L D G p.140
. . . . . . g.7328
GCAGTCCTTGTTCTCTGTGCTGTTGGAGGGGTACAGTGCCAGACCATGACTGTCAATCGT c.480
A V L V L C A V G G V Q C Q T M T V N R p.160
. . . . . . g.7388
CAGATGAAGCGCTACAACGTTCCGTTTCTAACTTTTATTAACAAATTGGACCGAATGGGC c.540
Q M K R Y N V P F L T F I N K L D R M G p.180
. . . | 05 . . . g.9541
TCCAACCCAGCCAGGGCCCTGCAGCAAATGAG | GTCTAAACTAAATCATAATGCAGCGTTT c.600
S N P A R A L Q Q M R | S K L N H N A A F p.200
. . . . . . g.9601
ATGCAGATACCCATGGGTTTGGAGGGTAATTTTAAAGGTATTGTAGATCTTATTGAGGAA c.660
M Q I P M G L E G N F K G I V D L I E E p.220
. . | 06 . . . g.12599
CGAGCCATCTATTTTGATGGAGACTTTGG | TCAGATTGTTCGATATGGTGAGATTCCAGCT c.720
R A I Y F D G D F G | Q I V R Y G E I P A p.240
. . . . . . g.12659
GAATTAAGGGCGGCGGCCACTGACCACCGGCAGGAGCTAATTGAATGTGTTGCCAATTCA c.780
E L R A A A T D H R Q E L I E C V A N S p.260
. . . . . . g.12719
GATGAACAGCTTGGTGAGATGTTTCTGGAAGAAAAAATCCCCTCGATTTCTGATTTAAAG c.840
D E Q L G E M F L E E K I P S I S D L K p.280
| 07 . . . . . . g.13842
| CTAGCAATTCGAAGAGCTACTCTGAAAAGATCATTTACTCCTGTATTTTTGGGAAGCGCC c.900
| L A I R R A T L K R S F T P V F L G S A p.300
. . . . . . g.13902
TTGAAGAACAAAGGAGTTCAGCCTCTTTTAGATGCTGTTTTAGAATACCTCCCAAATCCA c.960
L K N K G V Q P L L D A V L E Y L P N P p.320
. . . | 08 . . g.15041
TCTGAAGTCCAGAACTATGCTATTCTCAATAAAGAGGA | TGACTCAAAAGAGAAAACCAAA c.1020
S E V Q N Y A I L N K E D | D S K E K T K p.340
. . . . . . g.15101
ATCCTAATGAACTCCAGTAGAGACAATTCCCACCCATTTGTAGGCCTGGCTTTTAAACTG c.1080
I L M N S S R D N S H P F V G L A F K L p.360
| 09 . . . . . . g.19451
GAG | GTAGGTCGATTTGGACAATTAACTTATGTTCGCAGTTATCAGGGAGAGCTAAAGAAG c.1140
E | V G R F G Q L T Y V R S Y Q G E L K K p.380
. . . . . . g.19511
GGTGACACCATCTATAACACAAGGACAAGAAAGAAAGTACGGTTGCAACGGCTGGCTCGC c.1200
G D T I Y N T R T R K K V R L Q R L A R p.400
. . | 10 . . . . g.21385
ATGCATGCCGACATGATGGAG | GATGTTGAGGAAGTATATGCCGGAGACATCTGTGCATTG c.1260
M H A D M M E | D V E E V Y A G D I C A L p.420
. . . . . . g.21445
TTTGGCATTGACTGTGCTAGTGGAGACACATTCACAGACAAAGCCAACAGCGGCCTTTCT c.1320
F G I D C A S G D T F T D K A N S G L S p.440
| 11 . . . . . . g.23157
ATG | GAGTCAATTCATGTTCCTGATCCTGTCATTTCAATAGCAATGAAGCCTTCTAACAAG c.1380
M | E S I H V P D P V I S I A M K P S N K p.460
| 12 . . . . . . g.25869
| AACGATCTGGAAAAATTTTCAAAAGGTATTGGCAGGTTTACAAGAGAAGATCCCACATTT c.1440
| N D L E K F S K G I G R F T R E D P T F p.480
. . . . . . g.25929
AAAGTATACTTTGACACTGAGAACAAAGAGACAGTTATATCTGGAATGGGAGAATTACAC c.1500
K V Y F D T E N K E T V I S G M G E L H p.500
. | 13 . . . . g.26818
CTGGAAATCTATGCTCAG | AGGCTGGAAAGAGAGTATGGCTGTCCTTGTATCACAGGAAAG c.1560
L E I Y A Q | R L E R E Y G C P C I T G K p.520
. . . . | 14 . . g.42486
CCAAAAGTTGCCTTTCGAGAGACCATTACTGCCCCTGTCCC | GTTTGACTTTACACATAAA c.1620
P K V A F R E T I T A P V P | F D F T H K p.540
. . . . . . g.42546
AAACAATCAGGTGGTGCAGGCCAGTATGGAAAAGTAATAGGTGTCCTGGAGCCTCTGGAC c.1680
K Q S G G A G Q Y G K V I G V L E P L D p.560
. . . . . . g.42606
CCAGAGGACTACACTAAATTGGAATTTTCAGATGAAACATTCGGATCAAATATTCCAAAG c.1740
P E D Y T K L E F S D E T F G S N I P K p.580
. . | 15 . . . . g.45032
CAGTTTGTGCCTGCTGTAGAAAAG | GGGTTTTTAGATGCCTGCGAGAAGGGCCCTCTTTCT c.1800
Q F V P A V E K | G F L D A C E K G P L S p.600
. . . . . . g.45092
GGTCACAAGCTCTCTGGGCTCCGGTTTGTCCTGCAAGATGGAGCACACCACATGGTTGAT c.1860
G H K L S G L R F V L Q D G A H H M V D p.620
. . . . | 16 . g.50646
TCTAATGAAATCTCTTTCATCCGAGCAGGAGAAGGTGCTCTTAAACAAG | CCTTGGCAAAT c.1920
S N E I S F I R A G E G A L K Q A | L A N p.640
. . . . . . g.50706
GCAACATTATGTATTCTTGAACCTATTATGGCTGTGGAAGTTGTAGCTCCAAATGAATTT c.1980
A T L C I L E P I M A V E V V A P N E F p.660
. . . . . . g.50766
CAGGGACAAGTAATTGCAGGAATTAACCGACGCCATGGGGTAATCACTGGGCAAGATGGA c.2040
Q G Q V I A G I N R R H G V I T G Q D G p.680
. . . | 17 . . . g.51641
GTTGAGGACTATTTTACACTGTATGCAGAT | GTCCCTCTAAATGATATGTTTGGTTATTCC c.2100
V E D Y F T L Y A D | V P L N D M F G Y S p.700
. . | 18 . . . . g.51844
ACTGAACTTAGGTCATGCACAGAG | GGAAAGGGAGAATACACAATGGAGTATAGCAGGTAT c.2160
T E L R S C T E | G K G E Y T M E Y S R Y p.720
. . . . . . g.51904
CAGCCATGTTTACCATCCACACAAGAAGACGTCATTAATAAGTATTTGGAAGCTACAGGT c.2220
Q P C L P S T Q E D V I N K Y L E A T G p.740
. . . g.51940
CAACTTCCTGTTAAAAAAGGAAAAGCCAAGAACTAA c.2256
Q L P V K K G K A K N X p.751
. . . . . . g.52000
ctttgcttactgtgagttgactgactctaattgaatctgcgtggttttgatactttgatg c.*60
. . . . . . g.52060
gattccagtggaataaattcaggctgctgaaacaagaaattctgagcccaggaagcgggc c.*120
. . . . . . g.52120
tcttctttcttcaaaagaagcccttcttgttcatattcaggagcttctgttatattcaaa c.*180
. . . . . . g.52180
ggtaattctatgtctatctcaactctattgattggttttatagttcattgaaaatcctca c.*240
. . . . . . g.52240
aataaaatataattattactgaaatatgtttaatatttaaggggaaaagagactaatttc c.*300
. . . . . . g.52300
agttatacttttaagcttagaatgtatgttcatttccaaattttgtatcataagagtttt c.*360
. . . . . . g.52360
caacatagagaaaagctgaaaaaatgcaaagaataaccacatactttccatctaccttcc c.*420
. . . . . . g.52420
tttgttaacgggttgtttatcatataataatttgttttgtcatatttgctttcactgtct c.*480
. . . . . . g.52480
attatctgtttaagtctcataactctatttttagtttgctgaagacttgaaagtgaatcg c.*540
. . . . . . g.52540
catatatcatgacacttcttggagtgtcattaatgggcaggcttttctgttgaagagtgg c.*600
. . . . . . g.52600
attccgtatgttcttcatagagagtgtttttcagattcttcattgggatattaaaatatt c.*660
. . . . . . g.52660
agccaaatttctctctgttttatatatgtctgtttatttcagtttgtggtttctgcaaat c.*720
. . . . . . g.52720
ttgtaactgcctctgttttaggagtataagtattacttccttgtggtctattgtgaagta c.*780
. . . . . . g.52780
aaaagtagacccttgcatatactattcttgtttgtgttcatcttaatgtttttgtacagc c.*840
. . . . . . g.52840
taaatcaaatgtaatttatagagttagtttcatcaacctaatgaatgctagttaaatttg c.*900
. . . . . . g.52900
aattccttggaatttatcgtatattgtattcactgagattatgaagggacaaatgttaat c.*960
. . . . . . g.52960
cttttgtttccagaaaaagttgggctttcccaagcagttctattacccggttcagaattg c.*1020
. . . . . . g.53020
cttcatccaaaaatcatctgatggtatagatggatcctagtccttttcattacctgatgg c.*1080
. . g.53045
tagaaataaaataattgattttaaa c.*1105
(downstream sequence)
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