Canonical Allele Identifier: CA119412
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8256
ClinVar RCV Id: RCV000008745
dbSNP Id: rs387906394
MyVariant Identifiers: chr12:g.52309884_52309885insG (hg19) chr12:g.51916100_51916101insG (hg38)
PubMed: PMID:12700602 PMID:15024723 PMID:18285823
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51916100_51916101insG , CM000674.2:g.51916100_51916101insG GRCh38
NC_000012.11:g.52309884_52309885insG , CM000674.1:g.52309884_52309885insG GRCh37
NC_000012.10:g.50596151_50596152insG NCBI36
NG_009549.1:g.13683_13684insG , LRG_543:g.13683_13684insG

Transcript Alleles

HGVS Amino-acid change
ENST00000547400.6:c.843_844insG ENSP00000446724.2:p.Thr282AspfsTer20
ENST00000551576.6:c.1113_1114insG ENSP00000455848.2:p.Thr372AspfsTer20
ENST00000552678.2:c.1113_1114insG ENSP00000457394.2:p.Thr372AspfsTer20
ENST00000388922.9:c.1113_1114insG MANE Select ENSP00000373574.4:p.Thr372AspfsTer20
ENST00000388922.8:c.1113_1114insG ENSP00000373574.4:p.Thr372AspfsTer20
ENST00000419526.6:c.591_592insG ENSP00000392492.2:p.Thr198AspfsTer20
ENST00000547632.1:n.388_389insG
ENST00000550683.5:c.1155_1156insG ENSP00000447884.1:p.Thr386AspfsTer20
ENST00000552678.1:c.118_119insG
NM_000020.2:c.1113_1114insG , LRG_543t1:c.1113_1114insG NP_000011.2:p.Thr372AspfsTer20
NM_001077401.1:c.1113_1114insG NP_001070869.1:p.Thr372AspfsTer20
XM_005269235.2:c.1113_1114insG XP_005269292.1:p.Thr372AspfsTer20
XM_011539008.1:c.843_844insG XP_011537310.1:p.Thr282AspfsTer20
XM_024449279.1:c.324_325insG XP_024305047.1:p.Thr109AspfsTer20
NM_000020.3:c.1113_1114insG MANE Select NP_000011.2:p.Thr372AspfsTer20
NM_001077401.2:c.1113_1114insG NP_001070869.1:p.Thr372AspfsTer20
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