(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001039348.2 in the EFEMP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009098.1, covering EFEMP1 transcript NM_001039348.2.
(upstream sequence)
. . g.5021
ctagaaccctctggtctctga c.-481
. . . . . . g.5081
gggagatgctgtgttcccctcctcagagaagaagaaaacgcactagagagtgggagcatc c.-421
. . . . . . g.5141
cccaaggctgaagcgcatccaggacatcacatgtcaacgtgtcctctctggcgtggggtc c.-361
. . . . . . g.5201
cccgcgagtctgggaaacgaggagctggcaagggagggcaagcgggggcggcaaagaggg c.-301
. . . . . . g.5261
cccctggagcagggggcgcggacctcgctgcgctgcgcgctctaccgccgggctcgcaac c.-241
. . . . . . g.5321
gctgggctcagcgctcgcgcctccctcagctctctcctccgccccccttcgccctccccc c.-181
. . . . . . g.5381
tttccctccctttctcctcctcctcctgccgccgcggccgctgccggacttcgccagatc c.-121
. . . . . . g.5441
agacccacggggctgccctcccctgcgcactcccctcgctgcccgggcccggagcgcagc c.-61
. . | 02 . . . . | 03 g.6723
gcggccgcacag | gtatttttgctgtgctgtgcaaggaactctgctagctcaag | attcaca c.-1
. . . . . . g.6783
ATGTTGAAAGCCCTTTTCCTAACTATGCTGACTCTGGCGCTGGTCAAGTCACAGGACACC c.60
M L K A L F L T M L T L A L V K S Q D T p.20
. . | 04 . . . . g.10935
GAAGAAACCATCACGTACACG | CAATGCACTGACGGATATGAGTGGGATCCTGTGAGACAG c.120
E E T I T Y T | Q C T D G Y E W D P V R Q p.40
. | 05 . . . . . g.11162
CAATGCAAAG | ATATTGATGAATGTGACATTGTCCCAGACGCTTGTAAAGGTGGAATGAAG c.180
Q C K D | I D E C D I V P D A C K G G M K p.60
. . . . . . g.11222
TGTGTCAACCACTATGGAGGATACCTCTGCCTTCCGAAAACAGCCCAGATTATTGTCAAT c.240
C V N H Y G G Y L C L P K T A Q I I V N p.80
. . . . . . g.11282
AATGAACAGCCTCAGCAGGAAACACAACCAGCAGAAGGAACCTCAGGGGCAACCACCGGG c.300
N E Q P Q Q E T Q P A E G T S G A T T G p.100
. . . . . . g.11342
GTTGTAGCTGCCAGCAGCATGGCAACCAGTGGAGTGTTGCCCGGGGGTGGTTTTGTGGCC c.360
V V A A S S M A T S G V L P G G G F V A p.120
. . . . . . g.11402
AGTGCTGCTGCAGTCGCAGGCCCTGAAATGCAGACTGGCCGAAATAACTTTGTCATCCGG c.420
S A A A V A G P E M Q T G R N N F V I R p.140
. . . . . . g.11462
CGGAACCCAGCTGACCCTCAGCGCATTCCCTCCAACCCTTCCCACCGTATCCAGTGTGCA c.480
R N P A D P Q R I P S N P S H R I Q C A p.160
. . . | 06. . . g.47452
GCAGGCTACGAGCAAAGTGAACACAACGTGTGCCAAG | ACATAGACGAGTGCACTGCAGGG c.540
A G Y E Q S E H N V C Q D | I D E C T A G p.180
. . . . . . g.47512
ACGCACAACTGTAGAGCAGACCAAGTGTGCATCAATTTACGGGGATCCTTTGCATGTCAG c.600
T H N C R A D Q V C I N L R G S F A C Q p.200
. . . . | 07 . . g.51318
TGCCCTCCTGGATATCAGAAGCGAGGGGAGCAGTGCGTAG | ACATAGATGAATGTACCATC c.660
C P P G Y Q K R G E Q C V D | I D E C T I p.220
. . . . . . g.51378
CCTCCATATTGCCACCAAAGATGCGTGAATACACCAGGCTCATTTTATTGCCAGTGCAGT c.720
P P Y C H Q R C V N T P G S F Y C Q C S p.240
. . . . | 08 . . g.52441
CCTGGGTTTCAATTGGCAGCAAACAACTATACCTGCGTAG | ATATAAATGAATGTGATGCC c.780
P G F Q L A A N N Y T C V D | I N E C D A p.260
. . . . . . g.52501
AGCAATCAATGTGCTCAGCAGTGCTACAACATTCTTGGTTCATTCATCTGTCAGTGCAAT c.840
S N Q C A Q Q C Y N I L G S F I C Q C N p.280
. . . . | 09 . . g.54118
CAAGGATATGAGCTAAGCAGTGACAGGCTCAACTGTGAAG | ACATTGATGAATGCAGAACC c.900
Q G Y E L S S D R L N C E D | I D E C R T p.300
. . . . . . g.54178
TCAAGCTACCTGTGTCAATATCAATGTGTCAATGAACCTGGGAAATTCTCATGTATGTGC c.960
S S Y L C Q Y Q C V N E P G K F S C M C p.320
. . . . | 10 . . g.58060
CCCCAGGGATACCAAGTGGTGAGAAGTAGAACATGTCAAG | ATATAAATGAGTGTGAGACC c.1020
P Q G Y Q V V R S R T C Q D | I N E C E T p.340
. . . . . . g.58120
ACAAATGAATGCCGGGAGGATGAAATGTGTTGGAATTATCATGGCGGCTTCCGTTGTTAT c.1080
T N E C R E D E M C W N Y H G G F R C Y p.360
. . . . | 11 . . g.58264
CCACGAAATCCTTGTCAAGATCCCTACATTCTAACACCAGAGAA | CCGATGTGTTTGCCCA c.1140
P R N P C Q D P Y I L T P E N | R C V C P p.380
. . . . . . g.58324
GTCTCAAATGCCATGTGCCGAGAACTGCCCCAGTCAATAGTCTACAAATACATGAGCATC c.1200
V S N A M C R E L P Q S I V Y K Y M S I p.400
. . . . . . g.58384
CGATCTGATAGGTCTGTGCCATCAGACATCTTCCAGATACAGGCCACAACTATTTATGCC c.1260
R S D R S V P S D I F Q I Q A T T I Y A p.420
. . . . . . g.58444
AACACCATCAATACTTTTCGGATTAAATCTGGAAATGAAAATGGAGAGTTCTACCTACGA c.1320
N T I N T F R I K S G N E N G E F Y L R p.440
| 12 . . . . . . g.61989
| CAAACAAGTCCTGTAAGTGCAATGCTTGTGCTCGTGAAGTCATTATCAGGACCAAGAGAA c.1380
| Q T S P V S A M L V L V K S L S G P R E p.460
. . . . . . g.62049
CATATCGTGGACCTGGAGATGCTGACAGTCAGCAGTATAGGGACCTTCCGCACAAGCTCT c.1440
H I V D L E M L T V S S I G T F R T S S p.480
. . . . g.62091
GTGTTAAGATTGACAATAATAGTGGGGCCATTTTCATTTTAG c.1482
V L R L T I I V G P F S F X p.493
. . . . . . g.62151
tcttttctaagagtcaaccacaggcatttaagtcagccaaagaatattgttaccttaaag c.*60
. . . . . . g.62211
cactattttatttatagatatatctagtgcatctacatctctatactgtacactcaccca c.*120
. . . . . . g.62271
taattcaaacaattacaccatggtataaagtgggcatttaatatgtaaagattcaaagtt c.*180
. . . . . . g.62331
tgtctttattactatatgtaaattagacattaatccactaaactggtcttcttcaagaga c.*240
. . . . . . g.62391
gctaagtatacactatctggtgaaacttggattctttcctataaaagtgggaccaagcaa c.*300
. . . . . . g.62451
tgatgatcttctgtggtgcttaaggaaacttactagagctccactaacagtctcataagg c.*360
. . . . . . g.62511
aggcagccatcataaccattgaatagcatgcaagggtaagaatgagtttttaactgcttt c.*420
. . . . . . g.62571
gtaagaaaatggaaaaggtcaataaagatatatttctttagaaaatggggatctgccata c.*480
. . . . . . g.62631
tttgtgttggtttttattttcatatccagcctaaaggtggttgtttattatatagtaata c.*540
. . . . . . g.62691
aatcattgctgtacaatatgctggtttctgtagggtatttttaattttgtcagaaatttt c.*600
. . . . . . g.62751
agattgtgaatattttgtaaaaaacagtaagcaaaattttccagaattcccaaaatgaac c.*660
. . . . . . g.62811
cagatatcccctagaaaattatactattgagaaatctatggggaggatatgagaaaataa c.*720
. . . . . . g.62871
attccttctaaaccacattggaactgacctgaagaagcaaactcggaaaatataataaca c.*780
. . . . . . g.62931
tccctgaattcaggacttccacaagatgcagaacaaaatggataaaaggtatttcactgg c.*840
. . . . . . g.62991
agaagttttaatttctaagtaaaatttaaatcctaacacttcactaatttataactaaaa c.*900
. . . . . . g.63051
tttctcatcttcgtacttgatgctcacagaggaagaaaatgatgatggtttttattcctg c.*960
. . . . . . g.63111
gcatccagagtgacagtgaacttaagcaaattaccctcctacccaattctatggaatatt c.*1020
. . . . . . g.63171
ttatacgtctccttgtttaaaatgtcactgctttactttgatgtatcatatttttaaata c.*1080
. . . g.63202
aaaataaatattcctttagaagatcactcta c.*1111
(downstream sequence)
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