Canonical Allele Identifier: CA2573148781

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1398316
• ClinVar RCV Id: RCV001893526
• dbSNP Id: rs2139070714

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51914511_51914512dup , CM000674.2:g.51914511_51914512dup	GRCh38
NC_000012.11:g.52308295_52308296dup , CM000674.1:g.52308295_52308296dup	GRCh37
NC_000012.10:g.50594562_50594563dup	NCBI36
NG_009549.1:g.12094_12095dup , LRG_543:g.12094_12095dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.428_429dup	ENSP00000446724.2:p.Asp145GlyfsTer24
ENST00000551576.6:c.698_699dup	ENSP00000455848.2:p.Asp235GlyfsTer24
ENST00000552678.2:c.698_699dup	ENSP00000457394.2:p.Asp235GlyfsTer24
ENST00000388922.9:c.698_699dup MANE Select	ENSP00000373574.4:p.Asp235GlyfsTer24
ENST00000388922.8:c.698_699dup	ENSP00000373574.4:p.Asp235GlyfsTer24
ENST00000419526.6:c.176_177dup	ENSP00000392492.2:p.Asp61GlyfsTer24
ENST00000547400.5:c.428_429dup	ENSP00000446724.1:p.Asp145GlyfsTer?
ENST00000550683.5:c.740_741dup	ENSP00000447884.1:p.Asp249GlyfsTer24
NM_000020.2:c.698_699dup , LRG_543t1:c.698_699dup	NP_000011.2:p.Asp235GlyfsTer24
NM_001077401.1:c.698_699dup	NP_001070869.1:p.Asp235GlyfsTer24
XM_005269235.2:c.698_699dup	XP_005269292.1:p.Asp235GlyfsTer24
XM_011539008.1:c.428_429dup	XP_011537310.1:p.Asp145GlyfsTer24
XM_024449279.1:c.-92_-91dup	XP_024305047.1:n.-92_-91dup
NM_000020.3:c.698_699dup MANE Select	NP_000011.2:p.Asp235GlyfsTer24
NM_001077401.2:c.698_699dup	NP_001070869.1:p.Asp235GlyfsTer24