(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001718.4 in the BMP6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering BMP6 transcript NM_001718.4.
(upstream sequence)
. . . . . g.5058
caactgggggcgccccggacgaccatgagagataaggactgagggccaggaaggggaa c.-121
. . . . . . g.5118
gcgagcccgccgagaggtggcggggactgctcacgccaagggccacagcggccgcgctcc c.-61
. . . . . . g.5178
ggcctcgctccgccgctccacgcctcgcgggatccgcgggggcagcccggccgggcgggg c.-1
. . . . . . g.5238
ATGCCGGGGCTGGGGCGGAGGGCGCAGTGGCTGTGCTGGTGGTGGGGGCTGCTGTGCAGC c.60
M P G L G R R A Q W L C W W W G L L C S p.20
. . . . . . g.5298
TGCTGCGGGCCCCCGCCGCTGCGGCCGCCCTTGCCCGCTGCCGCGGCCGCCGCCGCCGGG c.120
C C G P P P L R P P L P A A A A A A A G p.40
. . . . . . g.5358
GGGCAGCTGCTGGGGGACGGCGGGAGCCCCGGCCGCACGGAGCAGCCGCCGCCGTCGCCG c.180
G Q L L G D G G S P G R T E Q P P P S P p.60
. . . . . . g.5418
CAGTCCTCCTCGGGCTTCCTGTACCGGCGGCTCAAGACGCAGGAGAAGCGGGAGATGCAG c.240
Q S S S G F L Y R R L K T Q E K R E M Q p.80
. . . . . . g.5478
AAGGAGATCTTGTCGGTGCTGGGGCTCCCGCACCGGCCCCGGCCCCTGCACGGCCTCCAA c.300
K E I L S V L G L P H R P R P L H G L Q p.100
. . . . . . g.5538
CAGCCGCAGCCCCCGGCGCTCCGGCAGCAGGAGGAGCAGCAGCAGCAGCAGCAGCTGCCT c.360
Q P Q P P A L R Q Q E E Q Q Q Q Q Q L P p.120
. . . . . . g.5598
CGCGGAGAGCCCCCTCCCGGGCGACTGAAGTCCGCGCCCCTCTTCATGCTGGATCTGTAC c.420
R G E P P P G R L K S A P L F M L D L Y p.140
. . . . . . g.5658
AACGCCCTGTCCGCCGACAACGACGAGGACGGGGCGTCGGAGGGGGAGAGGCAGCAGTCC c.480
N A L S A D N D E D G A S E G E R Q Q S p.160
. . . . . . g.5718
TGGCCCCACGAAGCAGCCAGCTCGTCCCAGCGTCGGCAGCCGCCCCCGGGCGCCGCGCAC c.540
W P H E A A S S S Q R R Q P P P G A A H p.180
. . . . . . g.5778
CCGCTCAACCGCAAGAGCCTTCTGGCCCCCGGATCTGGCAGCGGCGGCGCGTCCCCACTG c.600
P L N R K S L L A P G S G S G G A S P L p.200
. . . . . . g.5838
ACCAGCGCGCAGGACAGCGCCTTCCTCAACGACGCGGACATGGTCATGAGCTTTGTGAAC c.660
T S A Q D S A F L N D A D M V M S F V N p.220
| 02 . . . . . . g.123418
CTGG | TGGAGTACGACAAGGAGTTCTCCCCTCGTCAGCGACACCACAAAGAGTTCAAGTTC c.720
L V | E Y D K E F S P R Q R H H K E F K F p.240
. . . . . . g.123478
AACTTATCCCAGATTCCTGAGGGTGAGGTGGTGACGGCTGCAGAATTCCGCATCTACAAG c.780
N L S Q I P E G E V V T A A E F R I Y K p.260
. . . . . . g.123538
GACTGTGTTATGGGGAGTTTTAAAAACCAAACTTTTCTTATCAGCATTTATCAAGTCTTA c.840
D C V M G S F K N Q T F L I S I Y Q V L p.280
. | 03. . . . . g.139716
CAGGAGCATCAGCACAG | AGACTCTGACCTGTTTTTGTTGGACACCCGTGTAGTATGGGCC c.900
Q E H Q H R | D S D L F L L D T R V V W A p.300
. . . . . . g.139776
TCAGAAGAAGGCTGGCTGGAATTTGACATCACGGCCACTAGCAATCTGTGGGTTGTGACT c.960
S E E G W L E F D I T A T S N L W V V T p.320
. . . . | 04 . . g.140537
CCACAGCATAACATGGGGCTTCAGCTGAGCGTGGTGACAAGGGATG | GAGTCCACGTCCAC c.1020
P Q H N M G L Q L S V V T R D G | V H V H p.340
. . . . . . g.140597
CCCCGAGCCGCAGGCCTGGTGGGCAGAGACGGCCCTTACGACAAGCAGCCCTTCATGGTG c.1080
P R A A G L V G R D G P Y D K Q P F M V p.360
. . . . . . g.140657
GCTTTCTTCAAAGTGAGTGAGGTGCACGTGCGCACCACCAGGTCAGCCTCCAGCCGGCGC c.1140
A F F K V S E V H V R T T R S A S S R R p.380
. . . . . . g.140717
CGACAACAGAGTCGTAATCGCTCTACCCAGTCCCAGGACGTGGCGCGGGTCTCCAGTGCT c.1200
R Q Q S R N R S T Q S Q D V A R V S S A p.400
| 05 . . . . . . g.157352
TCAG | ATTACAACAGCAGTGAATTGAAAACAGCCTGCAGGAAGCATGAGCTGTATGTGAGT c.1260
S D | Y N S S E L K T A C R K H E L Y V S p.420
. . | 06 . . . . g.158252
TTCCAAGACCTGGGATGGCAG | GACTGGATCATTGCACCCAAGGGCTATGCTGCCAATTAC c.1320
F Q D L G W Q | D W I I A P K G Y A A N Y p.440
. . . . . . g.158312
TGTGATGGAGAATGCTCCTTCCCACTCAACGCACACATGAATGCAACCAACCACGCGATT c.1380
C D G E C S F P L N A H M N A T N H A I p.460
. | 07 . . . . . g.158464
GTGCAGACCTTG | GTTCACCTTATGAACCCCGAGTATGTCCCCAAACCGTGCTGTGCGCCA c.1440
V Q T L | V H L M N P E Y V P K P C C A P p.480
. . . . . . g.158524
ACTAAGCTAAATGCCATCTCGGTTCTTTACTTTGATGACAACTCCAATGTCATTCTGAAA c.1500
T K L N A I S V L Y F D D N S N V I L K p.500
. . . . g.158566
AAATACAGGAATATGGTTGTAAGAGCTTGTGGATGCCACTAA c.1542
K Y R N M V V R A C G C H X p.513
. . . . . . g.158626
ctcgaaaccagatgctggggacacacattctgccttggattcctagattacatctgcctt c.*60
. . . . . . g.158686
aaaaaaacacggaagcacagttggaggtgggacgatgagactttgaaactatctcatgcc c.*120
. . . . . . g.158746
agtgccttattacccaggaagattttaaaggacctcattaataatttgctcacttggtaa c.*180
. . . . . . g.158806
atgacgtgagtagttgttggtctgtagcaagctgagtttggatgtctgtagcataaggtc c.*240
. . . . . . g.158866
tggtaactgcagaaacataaccgtgaagctcttcctaccctcctcccccaaaaacccacc c.*300
. . . . . . g.158926
aaaattagttttagctgtagatcaagctatttggggtgtttgttagtaaatagggaaaat c.*360
. . . . . . g.158986
aatctcaaaggagttaaatgtattcttggctaaaggatcagctggttcagtactgtctat c.*420
. . . . . . g.159046
caaaggtagattttacagagaacagaaatcggggaagtggggggaacgcctctgttcagt c.*480
. . . . . . g.159106
tcattcccagaagtccacaggacgcacagcccaggccacagccagggctccacggggcgc c.*540
. . . . . . g.159166
ccttgtctcagtcattgctgttgtatgttcgtgctggagttttgttggtgtgaaaataca c.*600
. . . . . . g.159226
cttatttcagccaaaacataccatttctacacctcaatcctccatttgctgtactctttg c.*660
. . . . . . g.159286
ctagtaccaaaagtagactgattacactgaggtgaggctacaaggggtgtgtaaccgtgt c.*720
. . . . . . g.159346
aacacgtgaaggcaatgctcacctcttctttaccagaacggttctttgaccagcacatta c.*780
. . . . . . g.159406
acttctggactgccggctctagtaccttttcagtaaagtggttctctgcctttttactat c.*840
. . . . . . g.159466
acagcataccacgccacagggttagaaccaacgaagaaaataaaatgagggtgcccagct c.*900
. . . . . . g.159526
tataagaatggtgttagggggatgagcatgctgtttatgaacggaaatcatgatttccct c.*960
. . . . . . g.159586
tgtagaaagtgaggctcagattaaattttagaatattttctaaatgtctttttcacaatc c.*1020
. . . . . . g.159646
atgtactgggaaggcaatttcatactaaactgattaaataatacatttataatctacaac c.*1080
. . . . . . g.159706
tgtttgcacttacagctttttttgtaaatataaactataatttattgtctattttatatc c.*1140
. . . . . . g.159766
tgttttgctgtaacattgaaggaaagaccagacttttaaaaaaaaagagtttatttagaa c.*1200
. . . . . . g.159826
agtatcatagtgtaaacaaacaaattgtaccactttgattttcttggaatacaagactcg c.*1260
. . . . . . g.159886
tgatgcaaagctgaagttgtgtgtacaagactcttgacagttgtgcttctctaggaggtt c.*1320
. . . . . . g.159946
gggtttttttaaaaaaagaattatctgtgaaccatacgtgattaataaagatttccttta c.*1380
g.159951
aggca c.*1385
(downstream sequence)
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