(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004453.2 in the ETFDH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007078.2, covering ETFDH transcript NM_004453.2.
(upstream sequence)
. . . g.5032
gtgctgtgggattcgcggacccctctggccgc c.-301
. . . . . . g.5092
gctgtggctgtttcaccgctccccggctgggacttggagtcccttatctttccctggttt c.-241
. . . . . . g.5152
ggtacatgacccggaagcctcggctggccgttgcgtcatccatggcgccggcgcagagcg c.-181
. . . . . . g.5212
agaaggaggtgggaacgccgtgaagcaagagcggtcggcagagcggggaggcgaactgca c.-121
. . . . . . g.5272
gcagagttcttgctttccggcaggtgatggcgccccccgcggcctagaggtccagcgccc c.-61
. . . . . . g.5332
gccgcgagcagcggacagtcctcctgttgtgtccgaccgagagtcctggtgactttgaac c.-1
. . . | 02 . . . g.13368
ATGCTGGTGCCGCTAGCCAAGCTGTCCTGCCTGG | CATATCAGTGCTTTCATGCCTTAAAA c.60
M L V P L A K L S C L A | Y Q C F H A L K p.20
. . . . . . g.13428
ATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGCCT c.120
I K K N Y L P L C A T R W S S T S T V P p.40
. . . . . | 03 . g.15075
CGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAG | GAGTG c.180
R I T T H Y T I Y P R D K D K R W E G | V p.60
. . . . . . g.15135
AACATGGAAAGGTTTGCAGAAGAAGCAGATGTTGTAATAGTTGGTGCAGGCCCTGCAGGG c.240
N M E R F A E E A D V V I V G A G P A G p.80
. . . . . . g.15195
CTCTCTGCAGCTGTTCGTCTAAAACAGTTGGCTGTGGCACATGAAAAGGACATCCGTGTG c.300
L S A A V R L K Q L A V A H E K D I R V p.100
. . . . . . g.15255
TGTCTAGTGGAGAAAGCTGCCCAGATAGGAGCTCATACTCTCTCAGGGGCTTGCCTTGAT c.360
C L V E K A A Q I G A H T L S G A C L D p.120
. . . . | 04 . . g.17482
CCAGGTGCTTTTAAAGAACTCTTCCCAGACTGGAAAGAGAAGGGG | GCTCCACTTAACACT c.420
P G A F K E L F P D W K E K G | A P L N T p.140
. . . . . . g.17542
CCTGTAACAGAAGACAGATTTGGAATTTTAACAGAGAAATACAGAATTCCTGTGCCAATT c.480
P V T E D R F G I L T E K Y R I P V P I p.160
| 05. . . . . . g.18029
CTTCCAG | GGCTTCCAATGAATAATCATGGCAATTACATTGTACGCTTGGGACATTTAGTG c.540
L P G | L P M N N H G N Y I V R L G H L V p.180
. . . . . . g.18089
AGCTGGATGGGCGAACAAGCAGAAGCCCTTGGTGTTGAAGTATACCCTGGTTATGCAGCT c.600
S W M G E Q A E A L G V E V Y P G Y A A p.200
| 06 . . . . . . g.23277
GCTGAG | GTCCTTTTTCATGATGATGGTAGTGTAAAAGGAATTGCCACTAACGATGTAGGG c.660
A E | V L F H D D G S V K G I A T N D V G p.220
. . | 07 . . . . g.28408
ATACAAAAGGATGGTGCACCAAAG | GCAACATTTGAGAGAGGACTGGAACTACATGCTAAA c.720
I Q K D G A P K | A T F E R G L E L H A K p.240
. . . . . . g.28468
GTCACAATTTTTGCAGAAGGTTGCCATGGACATCTAGCCAAGCAACTATATAAGAAGTTT c.780
V T I F A E G C H G H L A K Q L Y K K F p.260
. . . . . | 08 . g.30443
GATTTGAGAGCAAATTGTGAACCTCAAACCTACGGGATTGGACTGAAGGAG | TTATGGGTT c.840
D L R A N C E P Q T Y G I G L K E | L W V p.280
. . . . . . g.30503
ATTGATGAAAAGAACTGGAAACCTGGGAGAGTAGATCACACTGTTGGTTGGCCCTTGGAC c.900
I D E K N W K P G R V D H T V G W P L D p.300
. . . . . . g.30563
AGACATACCTATGGAGGATCTTTCCTCTATCATTTGAATGAAGGTGAACCCCTAGTAGCT c.960
R H T Y G G S F L Y H L N E G E P L V A p.320
. | 09 . . . . . g.31910
CTTGGTCTTGTG | GTTGGTCTAGACTATCAGAATCCATACCTGAGTCCATTTAGAGAGTTC c.1020
L G L V | V G L D Y Q N P Y L S P F R E F p.340
. . . . . . g.31970
CAAAGGTGGAAACACCATCCTAGCATTCGGCCAACCTTGGAAGGTGGAAAAAGGATTGCA c.1080
Q R W K H H P S I R P T L E G G K R I A p.360
. . . | 10 . . . g.36322
TACGGAGCCAGAGCTCTCAATGAAGGTGGCTTTCAG | TCTATACCAAAACTCACCTTTCCT c.1140
Y G A R A L N E G G F Q | S I P K L T F P p.380
. . . . . . g.36382
GGTGGTTTACTAATTGGTTGTAGTCCTGGTTTTATGAATGTTCCCAAGATCAAAGGTACT c.1200
G G L L I G C S P G F M N V P K I K G T p.400
. . . . . . g.36442
CACACAGCAATGAAAAGTGGAATTTTAGCAGCAGAATCTATTTTTAATCAACTAACTAGT c.1260
H T A M K S G I L A A E S I F N Q L T S p.420
. . | 11 . . . . g.39099
GAAAATCTCCAATCAAAGACAATAG | GACTCCATGTAACTGAATATGAGGACAATTTGAAG c.1320
E N L Q S K T I G | L H V T E Y E D N L K p.440
. . . . . . g.39159
AACTCATGGGTATGGAAAGAGCTATATTCTGTTAGAAATATAAGACCGTCCTGCCACGGA c.1380
N S W V W K E L Y S V R N I R P S C H G p.460
. . . . . . g.39219
GTACTGGGTGTATATGGAGGGATGATTTACACTGGAATCTTTTACTGGATATTGAGAGGA c.1440
V L G V Y G G M I Y T G I F Y W I L R G p.480
. . | 12 . . . g.39536
ATGGAGCCGTGGACTCTGAAACATAAAG | GTTCTGACTTTGAACGGCTCAAGCCAGCCAAG c.1500
M E P W T L K H K G | S D F E R L K P A K p.500
. . . . . . g.39596
GATTGCACACCTATTGAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTTGTCA c.1560
D C T P I E Y P K P D G Q I S F D L L S p.520
. . . . . . g.39656
TCTGTGGCTCTGAGTGGTACTAATCATGAACATGACCAGCCGGCACACTTAACCTTAAGG c.1620
S V A L S G T N H E H D Q P A H L T L R p.540
. . . . . . g.39716
GATGACAGTATACCTGTAAATAGAAATCTGTCGATATATGATGGGCCCGAGCAGCGATTC c.1680
D D S I P V N R N L S I Y D G P E Q R F p.560
. | 13 . . . . . g.41289
TGTCCTGCAG | GAGTTTATGAATTTGTACCTGTGGAACAAGGTGATGGATTTCGGTTACAG c.1740
C P A G | V Y E F V P V E Q G D G F R L Q p.580
. . . . . . g.41349
ATAAATGCTCAGAACTGTGTACATTGTAAAACATGTGATATTAAAGATCCAAGTCAGAAT c.1800
I N A Q N C V H C K T C D I K D P S Q N p.600
. . . . . g.41403
ATTAACTGGGTGGTACCTGAAGGTGGAGGAGGACCTGCTTACAATGGAATGTAA c.1854
I N W V V P E G G G G P A Y N G M X p.617
. . . . . . g.41463
actgcagctagccagtttctttcaagtatggcaagctaacgttaaaatgtttagagatta c.*60
. . . . . . g.41523
acagatttcagaatgtctttctgcatattactgaacagaatagtcacaaaatgattatca c.*120
. . . . g.41566
aataaaaattttatactatatgtaagattgtcccataaagaaa c.*163
(downstream sequence)
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