(used for variant description)
(last modified August 14, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_030762.2 in the BHLHE41 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021173.1, covering BHLHE41 transcript NM_030762.2.
(upstream sequence)
. . . . . g.5051
ctggtctggccggcgacgcgcgtgccctgtggccaaacactgcctggagtg c.-241
. . . . . . g.5111
agagcaaactaccagcgcagtggggccggcgcgagtgtgcgtgtgtgtgcgtgtgtgtgt c.-181
. . . . . . g.5171
gcgagcgcggtggaggggggggaccaactgcttcacactttcaacactgcactgaagagg c.-121
. . . . . . g.5231
gagagcgagagagagactggagacgcacagatccccccaaggtctcccaagcctaccgtc c.-61
. . . . . . g.5291
ccacagattattgtacagagccccaaaaatcgaaacagaggaaacgaacagcagttgaac c.-1
. . . . . . g.5351
ATGGACGAAGGAATTCCTCATTTGCAAGAGAGACAGTTACTGGAACATAGAGATTTTATA c.60
M D E G I P H L Q E R Q L L E H R D F I p.20
| 02 . . . . . . g.5546
GG | ACTGGACTATTCCTCTTTGTATATGTGTAAACCCAAAAGGAGCATGAAACGAGACGAC c.120
G | L D Y S S L Y M C K P K R S M K R D D p.40
| 03 . . . . . . g.5945
ACCAAG | GATACCTACAAATTACCGCACAGATTAATAGAAAAGAAAAGAAGAGACCGAATT c.180
T K | D T Y K L P H R L I E K K R R D R I p.60
. . . . . | 04 . g.6335
AATGAATGCATTGCTCAGCTGAAAGATTTACTGCCTGAACATCTGAAATTGACA | ACTCTG c.240
N E C I A Q L K D L L P E H L K L T | T L p.80
. . . . . . g.6395
GGACATCTGGAGAAAGCTGTAGTCTTGGAATTAACTTTGAAACACTTAAAAGCTTTAACC c.300
G H L E K A V V L E L T L K H L K A L T p.100
. . . . | 05 . . g.6916
GCCTTAACCGAGCAACAGCATCAGAAGATAATTGCTTTACAGAATG | GGGAGCGATCTCTG c.360
A L T E Q Q H Q K I I A L Q N G | E R S L p.120
. . . . . . g.6976
AAATCGCCCATTCAGTCCGACTTGGATGCGTTCCACTCGGGATTTCAAACATGCGCCAAA c.420
K S P I Q S D L D A F H S G F Q T C A K p.140
. . . . . . g.7036
GAAGTCTTGCAATACCTCTCCCGGTTTGAGAGCTGGACACCCAGGGAGCCGCGGTGTGTC c.480
E V L Q Y L S R F E S W T P R E P R C V p.160
. . . . . . g.7096
CAGCTGATCAACCACTTGCACGCCGTGGCCACCCAGTTCTTGCCCACCCCGCAGCTGTTG c.540
Q L I N H L H A V A T Q F L P T P Q L L p.180
. . . . . . g.7156
ACTCAACAGGTCCCTCTGAGCAAAGGCACCGGCGCTCCCTCGGCCGCCGGGTCCGCGGCC c.600
T Q Q V P L S K G T G A P S A A G S A A p.200
. . . . . . g.7216
GCCCCCTGCCTGGAGCGCGCGGGGCAGAAGCTGGAGCCCCTCGCCTACTGCGTGCCCGTC c.660
A P C L E R A G Q K L E P L A Y C V P V p.220
. . . . . . g.7276
ATCCAGCGGACTCAGCCCAGCGCCGAGCTCGCCGCCGAGAACGACACGGACACCGACAGC c.720
I Q R T Q P S A E L A A E N D T D T D S p.240
. . . . . . g.7336
GGCTACGGCGGCGAAGCCGAGGCCCGGCCGGACCGCGAGAAAGGCAAAGGCGCGGGGGCG c.780
G Y G G E A E A R P D R E K G K G A G A p.260
. . . . . . g.7396
AGCCGCGTCACCATCAAGCAGGAGCCTCCCGGGGAGGACTCGCCGGCGCCCAAGAGGATG c.840
S R V T I K Q E P P G E D S P A P K R M p.280
. . . . . . g.7456
AAGCTGGATTCCCGCGGCGGCGGCAGCGGCGGCGGCCCGGGGGGCGGCGCGGCGGCGGCG c.900
K L D S R G G G S G G G P G G G A A A A p.300
. . . . . . g.7516
GCAGCCGCGCTTCTGGGGCCCGACCCTGCCGCCGCGGCCGCGCTGCTGAGACCCGACGCC c.960
A A A L L G P D P A A A A A L L R P D A p.320
. . . . . . g.7576
GCCCTGCTCAGCTCGCTGGTGGCGTTCGGCGGAGGCGGAGGCGCGCCCTTCCCGCAGCCC c.1020
A L L S S L V A F G G G G G A P F P Q P p.340
. . . . . . g.7636
GCGGCCGCCGCGGCCCCCTTCTGCCTGCCCTTCTGCTTCCTCTCGCCTTCTGCAGCTGCC c.1080
A A A A A P F C L P F C F L S P S A A A p.360
. . . . . . g.7696
GCCTACGTGCAGCCCTTCCTGGACAAGAGCGGCCTGGAGAAGTATCTGTACCCGGCGGCG c.1140
A Y V Q P F L D K S G L E K Y L Y P A A p.380
. . . . . . g.7756
GCTGCCGCCCCGTTCCCGCTGCTATACCCCGGCATCCCCGCCCCGGCGGCAGCCGCGGCA c.1200
A A A P F P L L Y P G I P A P A A A A A p.400
. . . . . . g.7816
GCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCGTTCCCCTGCCTGTCCTCGGTGTTGTCG c.1260
A A A A A A A A A A A F P C L S S V L S p.420
. . . . . . g.7876
CCCCCTCCCGAGAAGGCGGGCGCCGCCGCCGCGACCCTCCTGCCGCACGAGGTGGCGCCC c.1320
P P P E K A G A A A A T L L P H E V A P p.440
. . . . . . g.7936
CTTGGGGCGCCGCACCCCCAGCACCCGCACGGCCGCACCCACCTGCCCTTCGCCGGGCCC c.1380
L G A P H P Q H P H G R T H L P F A G P p.460
. . . . . . g.7996
CGCGAGCCGGGGAACCCGGAGAGCTCTGCTCAGGAAGATCCCTCGCAGCCAGGAAAGGAA c.1440
R E P G N P E S S A Q E D P S Q P G K E p.480
g.8005
GCTCCCTGA c.1449
A P X p.482
. . . . . . g.8065
atccttgcgtcccgaaggacggaggttcaagcagagtgagaagttaaaatacccttaagg c.*60
. . . . . . g.8125
aggttcaagcagagtgagaagttaaaatacccttaaggtctttaagggaggaagtgtaat c.*120
. . . . . . g.8185
agatgcacgacaggcataaacaagaacaacaaaacaggtgttatgtgtacattcggagtt c.*180
. . . . . . g.8245
cctgttttgctcatcccgcaccaccccaccctccacacactaacatccctttcttccccc c.*240
. . . . . . g.8305
caccagctgtaaaagatcctatgcgaaagacactggctcttttttttaatcccccaaata c.*300
. . . . . . g.8365
aattttgcccccttttaggccatgttccattatctcttaaaattggaacctaattcgaga c.*360
. . . . . . g.8425
ggaagtaagaagggtctgttctgtggctgagctaggtgaaccccggggtaggggaaagat c.*420
. . . . . . g.8485
gttaacacctttgacgtctttggagttgacatggaacagcaggtagttgttatgtagagc c.*480
. . . . . . g.8545
tagttctcaaagctgccctgcctgttttaggaggcgttccacaaacagattgaggctctt c.*540
. . . . . . g.8605
ttagaattgaatttactcttcagtattttctaatgttcagctttctaaaaggcatatatt c.*600
. . . . . . g.8665
tttcaaagaagtgaggatgcagtttctcacgttgcaacctattctgaagtggtttaaatg c.*660
. . . . . . g.8725
gtatctcttagtaacttgcactcgttaaagaaacacggagctgggccatcgtcagaacta c.*720
. . . . . . g.8785
agtcagggaaggagatggatgagaaggccagaatcattcctagtacatttgctaacactt c.*780
. . . . . . g.8845
tattgagaaattgaccatgaattaatggactcatcttaatttcttctaagtccatatata c.*840
. . . . . . g.8905
gatagatatctatctgtacagatttctatttatccatagataggtatctatacatacaca c.*900
. . . . . . g.8965
tctcaagtgcatctattcccactctcattaatccatcatgttcctaaatttttgtaatct c.*960
. . . . . . g.9025
tactgtaaaaaaaagtgcactgaacttcaaaacaaaacaaaaaacaacaacaacaaaaaa c.*1020
. . . . . . g.9085
caagtccaaactgatatatcctatattctgttaaaattcaaaagtgaacgaaagcattta c.*1080
. . . . . . g.9145
actggccagttttgattgcaaatgctgtaaagatatagaatgaagtcctgtgaggccttc c.*1140
. . . . . . g.9205
ctatctccaagtctatgtattttctggagaccaaaccagataccagataatcacaaagaa c.*1200
. . . . . . g.9265
agcttttttaataaggcttaaaccaagaccttgtctagatatttttagtttgttgccaag c.*1260
. . . . . . g.9325
gtagcactgtgagaaatctcacttggatgttatgtaaggggtgagacacaacagtctgac c.*1320
. . . . . . g.9385
tatgagtgaggaaaatatctgggtcttttcgtcagtttggtgcatttgctgctgctgttg c.*1380
. . . . . . g.9445
ctactgtttgcctcaaacgctgtgtttaaacaacgttaaactcttagcctacaaggtggc c.*1440
. . . . . . g.9505
tcttatgtacatagttgttaatacatccaattaatgatgtctgacatgctatttttgtag c.*1500
. . . . . . g.9565
ggagaaaatatgtgctaatgatattttgagttaaaatatcttttggggaggatttgctga c.*1560
. . . . . . g.9625
aaagttgcacttttgttacaatgcttatgcttggtacaagcttatgctgtcttaaattat c.*1620
. . . . . . g.9685
tttaaaaaaataaatactgtctgtgagaaaccagctggtttagaaaagtttagtatgtga c.*1680
. . . . . . g.9745
cgataaactagaaattacctttatattctagtattttcagcactccataaattctattac c.*1740
. . . . . . g.9805
ctaaatattgccacactattttgtgatttaaaaattcttactaaggaataaaaactttaa c.*1800
. . . . . . g.9865
tatacgatatgatattgtctaataattaaaaaagacataatggatgctcaattagtttta c.*1860
. . . . . . g.9925
agatatctataactatagggatacaaatcactacagttctcagatttacagctttttttt c.*1920
. . . . . . g.9985
gtcattggcttgatgtcacacatttccaatctcttgcaagcctccaggctctggctttgt c.*1980
. . . . . . g.10045
ctacctgctcgttcccaatgtatcttaatgaaaagtgcaaaagaaaaacctaccaattaa c.*2040
(downstream sequence)
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