(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_022726.3 in the ELOVL4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009108.2, covering ELOVL4 transcript NM_022726.3.
(upstream sequence)
. g.5019
acgtgacgccggctgagga c.-301
. . . . . . g.5079
gattggaggggcggctgcgcgaggctgcagactggtgcagcgcactgtgctggcggctgg c.-241
. . . . . . g.5139
gcctcctccacctcctcgtctttctcccgggaaccttgacgacgccttccgcttggccct c.-181
. . . . . . g.5199
gccttctgccgcatccccgccgccgcggcgccttgaggagcaggagaagacgcagccggg c.-121
. . . . . . g.5259
ccgccgccgttagaggggttcccggccgccgctcgccccgtcggccgccaccgcctccgg c.-61
. . . . . . g.5319
ggtcagccctctctctgggtctccgctttctcctgccgccagcgcccgctcatcgccgcg c.-1
. . . . . . g.5379
ATGGGGCTCCTGGACTCGGAGCCGGGTAGTGTCCTAAACGTAGTGTCCACGGCACTCAAC c.60
M G L L D S E P G S V L N V V S T A L N p.20
. . . . | 02 . . g.26237
GACACGGTAGAGTTCTACCGCTGGACCTGGTCCATCGCAG | ATAAGCGTGTGGAAAATTGG c.120
D T V E F Y R W T W S I A D | K R V E N W p.40
. . . . . . g.26297
CCTCTGATGCAGTCTCCTTGGCCTACACTAAGTATAAGCACTCTTTATCTCCTGTTTGTG c.180
P L M Q S P W P T L S I S T L Y L L F V p.60
. . . . . . g.26357
TGGCTGGGTCCAAAATGGATGAAGGACCGAGAACCTTTTCAGATGCGTCTAGTGCTCATT c.240
W L G P K W M K D R E P F Q M R L V L I p.80
. . . . | 03 . g.27578
ATCTATAATTTTGGGATGGTTTTGCTTAACCTCTTTATCTTCAGAGAG | TTATTCATGGGA c.300
I Y N F G M V L L N L F I F R E | L F M G p.100
. . . . . . g.27638
TCATATAATGCGGGATATAGCTATATTTGCCAGAGTGTGGATTATTCTAATAATGTTCAT c.360
S Y N A G Y S Y I C Q S V D Y S N N V H p.120
| 04 . . . . . g.30853
GAAGTCAGG | ATAGCTGCTGCTCTGTGGTGGTACTTTGTATCTAAAGGAGTTGAGTATTTG c.420
E V R | I A A A L W W Y F V S K G V E Y L p.140
. . . . . . g.30913
GACACAGTGTTTTTTATTCTGAGAAAGAAAAACAACCAAGTTTCTTTCCTTCATGTGTAT c.480
D T V F F I L R K K N N Q V S F L H V Y p.160
. . . . . . g.30973
CATCACTGTACGATGTTTACCTTGTGGTGGATTGGAATTAAGTGGGTTGCAGGAGGACAA c.540
H H C T M F T L W W I G I K W V A G G Q p.180
| 05 . . . . . . g.33110
G | CATTTTTTGGAGCCCAGTTGAATTCCTTTATCCATGTGATTATGTACTCATACTATGGG c.600
A | F F G A Q L N S F I H V I M Y S Y Y G p.200
. . . . . . g.33170
TTAACTGCATTTGGCCCATGGATTCAGAAATATCTTTGGTGGAAACGATACCTGACTATG c.660
L T A F G P W I Q K Y L W W K R Y L T M p.220
| 06 . . . . . g.35766
TTGCAACTG | ATTCAATTCCATGTGACCATTGGGCACACGGCACTGTCTCTTTACACTGAC c.720
L Q L | I Q F H V T I G H T A L S L Y T D p.240
. . . . . . g.35826
TGCCCCTTCCCCAAATGGATGCACTGGGCTCTAATTGCCTATGCAATCAGCTTCATATTT c.780
C P F P K W M H W A L I A Y A I S F I F p.260
. . . . . . g.35886
CTCTTTCTTAACTTCTACATTCGGACATACAAAGAGCCTAAGAAACCAAAAGCTGGAAAA c.840
L F L N F Y I R T Y K E P K K P K A G K p.280
. . . . . . g.35946
ACAGCCATGAATGGTATTTCAGCAAATGGTGTGAGCAAATCAGAAAAACAACTCATGATA c.900
T A M N G I S A N G V S K S E K Q L M I p.300
. . . . g.35991
GAAAATGGAAAAAAGCAGAAAAATGGAAAAGCAAAAGGAGATTAA c.945
E N G K K Q K N G K A K G D X p.314
. . . . . . g.36051
attgaactgggccttaactgttgttgacagtgaggaaaaactcccatatcatataaaatt c.*60
. . . . . . g.36111
tcagggaaaacagaagcaaaggagagcttgggggtggggagaaaagacaaatgtgctcta c.*120
. . . . . . g.36171
tgtcctagtaactcttagactgagtaaagtgttaataccatacccagatgttttatttat c.*180
. . . . . . g.36231
gaagtttttattttaaacattttttttaaaaattagccttgatattctccagaccaaagc c.*240
. . . . . . g.36291
aatcattaagtgactttggggattctccccctgttcacatccagttgtctaaaggatgag c.*300
. . . . . . g.36351
atttttcatgtatcttatagtcactcattcttcggtctgaattttagacgatcacagaaa c.*360
. . . . . . g.36411
cggtctttatgaattattttgataaattactaattatcttatctactgactgaaatcagt c.*420
. . . . . . g.36471
ggtgttacattttcttgtccaaagctgaaaatgtgtatacacttaaacttgcacatttga c.*480
. . . . . . g.36531
attcatttgctgaccggaatggtcaaatctctccacctctagtcagagtataattttggt c.*540
. . . . . . g.36591
tgtaattaaatttttaaaatctgctgatctctgtagaatcttagaggcttgatgatgatg c.*600
. . . . . . g.36651
gtgttggtgaaaataagaaagaattgcagtaaagtcttgtctggtgacccagagatcacc c.*660
. . . . . . g.36711
atgacttgaggcacaaatcactgtggggaaacaattttttgtgatgaaaaggcagcattt c.*720
. . . . . . g.36771
gaatactcctgttagtagcagaaatatattatgaaaattaagattattgtctgattgaaa c.*780
. . . . . . g.36831
catgaaacaactcatgtctttattagtaacatcataagatagttacatttatgtgctgtt c.*840
. . . . . . g.36891
agaatatgttgatttttatcaggctttccttgttttgatttatggctgttcctgattttt c.*900
. . . . . . g.36951
catatgtggaaatatacctacctcttccgttggaaagaacatttaaaattaaataaattt c.*960
. . . . . . g.37011
taattaaaaaatcaaggagtcttctaatgtaaattttaatgttaactttcaaatccacta c.*1020
. . . . . . g.37071
gtattttttttgcttttatgacaaatagcatacaccaaacatttctgtgaaactatcctt c.*1080
. . . . . . g.37131
ctctttcaatgtgtttaattttggagtaacgttttccttgtgactaagttgcaagatctt c.*1140
. . . . . . g.37191
atttattaactaggtatgaagtataaacccattttggtgcaatattcttgactccttggt c.*1200
. . . . . . g.37251
gctaaagattgttaaattcaatgcttgatgttacaaggtgttgttaaaacacaaaatgaa c.*1260
. . . . . . g.37311
taaaagtgagagtagtcagaactataacattcaatttgctatttacaaatgaagtatttc c.*1320
. . . . . . g.37371
atgtaatataagtgaacaactggaaataaagtaggaaagaatttgtatcatgttttacta c.*1380
. . . . . . g.37431
cataggttaattttttaagggatgttgcaaagggattactagagaaagacaaaatgtgac c.*1440
. . . . . . g.37491
caaaaaaaagcatgaatatttcttaagtatctcaacaacatgtcaaagctgcatgtgtag c.*1500
. . . . . . g.37551
gatgtatgctgtttgtacaaactatttcagaatattttgtaagctataacatatttattg c.*1560
. . . . . . g.37611
tgcattaaaattaaatactttttccccaaaggcatgcagtcatgagaattacagaaaatt c.*1620
. . . . . . g.37671
tgcaacatataaagtagtttgatctaagaggattcaacacctttgttttgttgctcagtg c.*1680
. . . . . . g.37731
tgtaatgactgagatttgtaaatctttgtgaacattctgtactggttcccaagagctatt c.*1740
. . . . . g.37787
cattccctgctacctgatttcagcacaataaatatacttctgctgtgggaaaaata c.*1796
(downstream sequence)
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