(used for variant description)
(last modified August 3, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_017671.4 in the FERMT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016213.1, covering FERMT1 transcript NM_017671.4.
(upstream sequence)
g.5009
ctggagtct c.-781
. . . . . . g.5069
cccctggtcgggagcctcagccttctggagactgacaccaccctcttactcagagacgaa c.-721
. . . . . . g.5129
tcgttttgtcgttgccttcacctccctgaccacaagtgctccggggctctttctgaggga c.-661
. . . . . . g.5189
ggcagctgttctaggcgggaggctggagtctcctgggcctggacgcaccccggggtgtga c.-601
. . . . . . g.5249
gtgatgggtatgcctgaaaggaggggaagtggcgcggctttaatcatctgggctagtccc c.-541
. . . . . . g.5309
cggcgggcctgggggaacagggaaactggaggcggccttaaagcgtcaggatgagacatc c.-481
. . . . . . g.5369
gcaagaggagctgcagatactgagcgtgcgccccgggttctcgccgccttctctccgccg c.-421
. . . . . . g.5429
agcagcccttcggccaccctttgcccttaaaaatctgcagactgcgcctcctctccgcgg c.-361
. . . . . . g.5489
gagcgagacctagcaggcccggggctgggcgtgccctcgcctgccacgctgcgcgctgcc c.-301
. . . . . . g.5549
ctcagccgggccgctggggccgtgcagtgcaccgggcacgccgcgccaggctgggggcag c.-241
. . . . . . g.5609
gcaccgagcctccgtgggaggtcccgaggcagcttcgcctgctcgccctggctccagccc c.-181
. . . . . . g.5669
tcacctgccgcagccttagctgagcagccgccgccactgggcgccccccgctccccactt c.-121
. . . . . . g.5729
cgccagcgcccgctcctcggctcggcccggggtagtttgtagggacgcagctctccacgt c.-61
. . . . . | 02 . g.8990
gcgcgactgcgaggctggacgctacgggctcctggaaaggag | acaccagcatttgccaca c.-1
. . . . . . g.9050
ATGCTGTCATCCACTGACTTTACATTTGCTTCCTGGGAGCTTGTGGTCCGCGTTGACCAT c.60
M L S S T D F T F A S W E L V V R V D H p.20
. . . . . . g.9110
CCCAATGAAGAGCAGCAGAAAGACGTCACACTGAGAGTATCTGGAGACCTTCATGTTGGA c.120
P N E E Q Q K D V T L R V S G D L H V G p.40
. . . | 03 . . . g.12529
GGAGTGATGCTCAAGTTAGTAGAACAGATCA | ATATATCCCAAGACTGGTCAGACTTTGCT c.180
G V M L K L V E Q I N | I S Q D W S D F A p.60
. . . . . . g.12589
CTTTGGTGGGAACAGAAGCATTGCTGGCTTCTGAAAACCCACTGGACCCTGGACAAATAT c.240
L W W E Q K H C W L L K T H W T L D K Y p.80
. . . . . . g.12649
GGGGTCCAGGCAGATGCAAAGCTTCTCTTCACCCCTCAGCATAAAATGCTGCGCCTTCGT c.300
G V Q A D A K L L F T P Q H K M L R L R p.100
. . . . . . g.12709
CTGCCGAATTTGAAGATGGTGAGGTTGCGAGTCAGCTTCTCAGCTGTGGTTTTTAAAGCT c.360
L P N L K M V R L R V S F S A V V F K A p.120
. . | 04 . . . . g.15956
GTCAGTGATATCTGCAAAATCCTGA | ATATTAGAAGATCAGAAGAGCTTTCCTTGTTAAAG c.420
V S D I C K I L N | I R R S E E L S L L K p.140
. . . . . . g.16016
CCGTCTGGTGACTATTTTAAGAAGAAGAAGAAAAAAGACAAAAATAATAAGGAACCCATA c.480
P S G D Y F K K K K K K D K N N K E P I p.160
. . . . . | 05 . g.18041
ATTGAAGATATTCTAAACCTGGAGAGTTCTCCAACAGCTTCAGGTTCATCAG | TAAGTCCT c.540
I E D I L N L E S S P T A S G S S V | S P p.180
. . . . . . g.18101
GGTTTATACAGTAAAACCATGACCCCTATATATGACCCCATCAATGGAACACCAGCATCA c.600
G L Y S K T M T P I Y D P I N G T P A S p.200
. . . . . . g.18161
TCCACCATGACTTGGTTCAGTGACAGCCCTTTGACGGAACAAAACTGCAGCATCCTCGCA c.660
S T M T W F S D S P L T E Q N C S I L A p.220
. . . . . . g.18221
TTCAGCCAACCCCCCCAGTCCCCAGAAGCACTTGCGGATATGTACCAGCCTCGGTCTCTG c.720
F S Q P P Q S P E A L A D M Y Q P R S L p.240
. . | 06 . . . . g.20944
GTTGATAAAGCCAAGCTCAATGCAGG | TTGGCTAGACTCCTCACGCTCCCTTATGGAACAA c.780
V D K A K L N A G | W L D S S R S L M E Q p.260
. . . . . . g.21004
GGCATCCAAGAGGATGAGCAGCTGCTCTTACGATTTAAATATTATTCTTTCTTCGACTTG c.840
G I Q E D E Q L L L R F K Y Y S F F D L p.280
| 07 . . . . . g.30964
AATCCTAAA | TATGATGCTGTCCGAATAAACCAACTCTATGAGCAAGCCAGGTGGGCCATT c.900
N P K | Y D A V R I N Q L Y E Q A R W A I p.300
. . . . . | 08. g.31514
CTCTTAGAAGAAATTGATTGCACAGAGGAAGAAATGTTGATCTTTGCAGCTCTACAG | TAC c.960
L L E E I D C T E E E M L I F A A L Q | Y p.320
. . . . . . g.31574
CACATTAGCAAACTGTCGTTGTCTGCTGAAACACAGGATTTTGCAGGCGAGTCCGAGGTT c.1020
H I S K L S L S A E T Q D F A G E S E V p.340
. . . . . . g.31634
GATGAAATAGAAGCGGCGCTTTCTAATTTGGAAGTAACCCTAGAAGGTGGAAAAGCGGAC c.1080
D E I E A A L S N L E V T L E G G K A D p.360
| 09 . . . . | 10 g.39456
AGCCTTTTG | GAGGACATTACTGATATCCCTAAACTTGCAGATAATCTCAAATTATTTAG | G c.1140
S L L | E D I T D I P K L A D N L K L F R | p.380
. . . . . . g.39516
CCCAAGAAGTTACTACCAAAAGCTTTCAAACAATATTGGTTTATCTTTAAAGACACATCC c.1200
P K K L L P K A F K Q Y W F I F K D T S p.400
. . . . . . g.39576
ATAGCATACTTTAAAAATAAGGAACTTGAACAAGGAGAACCACTAGAAAAACTAAATCTT c.1260
I A Y F K N K E L E Q G E P L E K L N L p.420
| 11 . . . . . . g.40717
AGAG | GCTGCGAAGTTGTGCCCGATGTAAATGTAGCAGGAAGAAAATTTGGAATCAAGTTA c.1320
R G | C E V V P D V N V A G R K F G I K L p.440
. . . . . | 12 . g.43266
CTAATCCCTGTTGCCGATGGTATGAATGAAATGTATTTGAGATGTGACCAT | GAGAATCAA c.1380
L I P V A D G M N E M Y L R C D H | E N Q p.460
. . . . . . g.43326
TACGCCCAATGGATGGCTGCCTGCATGTTGGCATCGAAGGGCAAAACCATGGCAGACAGC c.1440
Y A Q W M A A C M L A S K G K T M A D S p.480
. . . . . . g.43386
TCCTACCAGCCAGAGGTCCTCAACATCCTTTCATTTCTGAGGATGAAAAACAGGAACTCT c.1500
S Y Q P E V L N I L S F L R M K N R N S p.500
. . . . . . g.43446
GCATCTCAGGTGGCTTCCAGTCTCGAAAACATGGATATGAACCCAGAATGTTTTGTGTCA c.1560
A S Q V A S S L E N M D M N P E C F V S p.520
. . . | 13 . . . g.44407
CCACGGTGTGCAAAAAGACACAAATCCAAACAG | CTGGCCGCCCGGATCCTGGAGGCGCAC c.1620
P R C A K R H K S K Q | L A A R I L E A H p.540
. . . . . . g.44467
CAGAACGTGGCCCAGATGCCCCTGGTCGAAGCCAAGCTGCGGTTCATCCAGGCGTGGCAG c.1680
Q N V A Q M P L V E A K L R F I Q A W Q p.560
. . . | 14 . . g.48989
TCACTGCCTGAGTTTGGCCTCACCTACTACCTTGTCAG | ATTTAAAGGAAGCAAAAAAGAT c.1740
S L P E F G L T Y Y L V R | F K G S K K D p.580
. . . . . . g.49049
GACATTCTGGGAGTTTCATATAACAGGTTGATTAAAATTGATGCAGCCACCGGGATTCCA c.1800
D I L G V S Y N R L I K I D A A T G I P p.600
. . . . . . g.49109
GTGACAACATGGAGATTCACAAATATCAAACAGTGGAATGTAAACTGGGAAACCCGGCAG c.1860
V T T W R F T N I K Q W N V N W E T R Q p.620
| 15 . . . . . . g.51258
| GTGGTCATCGAGTTTGACCAAAACGTCTTTACTGCTTTCACCTGCCTGAGTGCAGATTGC c.1920
| V V I E F D Q N V F T A F T C L S A D C p.640
. . . . . . g.51318
AAGATTGTGCACGAGTACATTGGCGGCTACATTTTCTTGTCCACCCGCTCCAAGGACCAG c.1980
K I V H E Y I G G Y I F L S T R S K D Q p.660
. . . . . g.51372
AATGAAACACTCGATGAGGACTTGTTCCACAAATTGACCGGCGGTCAGGATTGA c.2034
N E T L D E D L F H K L T G G Q D X p.677
. . . . . . g.51432
aacaagcacgcgtgctcggctcacaccaacaaggcaagccaaaggcgcccctccccagag c.*60
. . . . . . g.51492
ggatccctaacgtgcccagcatgtagattctggactaacagacaacatacattcaccgct c.*120
. . . . . . g.51552
ggtcacccagatcctcattcaaacccactgctggcacatccctttccttactttgccctg c.*180
. . . . . . g.51612
tgctaccagccacggaaggagcctctcttgttttttctataaaatgggtaggcaggagaa c.*240
. . . . . . g.51672
aagcaggtgccctaagattgctctaaggcccagcatgtggttacagttctctgacttgca c.*300
. . . . . . g.51732
gaacctgccaggtgtatggctacaagttatcctcgtgctgatctgtctcattactaagtc c.*360
. . . . . . g.51792
aatggagaagacagaaaggtaaaaatcacgtgtagcaagaacaactcttatttcacaaac c.*420
. . . . . . g.51852
tcaggtatgaaacgaaacgcctgtccttcatggaactgcttttagctcctgtcttttcaa c.*480
. . . . . . g.51912
aatggcagagggagttcctacacacactttttccctggaggccaaggtctaggggtagaa c.*540
. . . . . . g.51972
aggggaggggtggggctaccaggtagcagttgacaacccaaggtcagaggagtggccctc c.*600
. . . . . . g.52032
agtgtcatctgtccacagtgatacctgccaagatgaccactgacccacatctggtcttag c.*660
. . . . . . g.52092
tcattggtctcctcagatttctggggccacctgcaagccccattccattcctacagatct c.*720
. . . . . . g.52152
ctcagccacctgtaagtcctttgtgaagatgtgggtgacacagggggacaggaaaaccca c.*780
. . . . . . g.52212
tttctcaacccagatccatgtctccactgcttctactctgggttgggattcaggaagaca c.*840
. . . . . . g.52272
ggcacagtcctctctgttcatagaaacacctgccagtgtcaaggattccagtcaggtgtc c.*900
. . . . . . g.52332
tatcccaactggtcagggagagaagggcagacccattctcaaagaccaccatgtccaagg c.*960
. . . . . . g.52392
tctgacagctccccactggctgcccccacaggggctttaggctggtctgggtcatgggga c.*1020
. . . . . . g.52452
agcgtccctcttatcgctggtctgtgttctcctggatttggtatctatgttggtacgact c.*1080
. . . . . . g.52512
cctggccttttatctaaaggactttggcttttgtaaatcacaagccaataatagactttt c.*1140
. . . . . . g.52572
ttctccccctctgttttttgctgtgtcatctctgccttgagactgccttgagacagtgct c.*1200
. . . . . . g.52632
tgccttgagagagtgagccaattaacagctgcctgaattgtcattttccattttggtttg c.*1260
. . . . . . g.52692
ttagaggtgggaggggtgggttttgagaaggtcaaaagcaataccagaagtaaagggaaa c.*1320
. . . . . . g.52752
tatcagacaatattttattattttttcatagatgttctgccacacaaagaacttggggtg c.*1380
. . . . . . g.52812
taaggataaggcaaaagctccaatcccatttttcagttctcctaggatgcacccctcagg c.*1440
. . . . . . g.52872
gagcctggccagagttccgaggcccgtgagcgtcagctgttgctttattttccatcaaag c.*1500
. . . . . . g.52932
ccctctgagaagtgagacctcagcaattccgggagccacatagagacagacttggcaagg c.*1560
. . . . . . g.52992
gaccccctggttctgagccagtagctgccatctggaaattcctcttttagcctctcctta c.*1620
. . . . . . g.53052
gaggtgaatgtgaatgaagcctcccaggcacccgctgaatttctgaggccttgcttaaag c.*1680
. . . . . . g.53112
ctcagaagtggtttaggcatttggaaaatctggttcacatcataaagaacttgatttgaa c.*1740
. . . . . . g.53172
atgttttctatagaaacaagtgctaagtgtaccgtatatacttgatgttggtcatttctc c.*1800
. . . . . . g.53232
agtcctatttctcagttctattattttagaacctagtcagttctttaagattataactgg c.*1860
. . . . . . g.53292
tcctacattaaaataatgcttctcgatgtcagattttacctgtttgctgctgagaacatc c.*1920
. . . . . . g.53352
tctgcctaatttaccaaagccagaccttcagttcaacatgcttccttagcttttcatagt c.*1980
. . . . . . g.53412
tgtctgacatttccatgaaaacaaaggaaccaactttgttttaaccaaactttgtttggt c.*2040
. . . . . . g.53472
tacagttttcaggggagcgtttcttccatgacacacagcaacatcccaaagaaataaaca c.*2100
. . . . . . g.53532
agtgtgacaaaaaaaaaaaaaaacaaacctaaatgctactgttccaaagagcaacttgat c.*2160
. . . . . . g.53592
ggttttttttaatactgagtgcaaaaggtcacccaaattcctatgatgaaattttaaatt c.*2220
. . . . . . g.53652
aatgggcacctttcaacatcatttgcttccttatctacagttgattcagaaatctgcatt c.*2280
. . . . g.53700
ttttattcttttatatgacttttaagtaaaagatttatatggatttga c.*2328
(downstream sequence)
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