Canonical Allele Identifier: CA2580086451

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1739848
• ClinVar RCV Id: RCV002332185

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913678del , CM000674.2:g.51913678del	GRCh38
NC_000012.11:g.52307462del , CM000674.1:g.52307462del	GRCh37
NC_000012.10:g.50593729del	NCBI36
NG_009549.1:g.11261del , LRG_543:g.11261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+328del	ENSP00000446724.2:n.355+328del
ENST00000551576.6:c.433del	ENSP00000455848.2:p.Arg145GlyfsTer20
ENST00000552678.2:c.433del	ENSP00000457394.2:p.Arg145GlyfsTer20
ENST00000388922.9:c.433del MANE Select	ENSP00000373574.4:p.Arg145GlyfsTer20
ENST00000388922.8:c.433del	ENSP00000373574.4:p.Arg145GlyfsTer20
ENST00000419526.6:c.104-761del	ENSP00000392492.2:n.104-761del
ENST00000547400.5:c.355+328del	ENSP00000446724.1:n.355+328del
ENST00000550683.5:c.475del	ENSP00000447884.1:p.Arg159GlyfsTer20
NM_000020.2:c.433del , LRG_543t1:c.433del	NP_000011.2:p.Arg145GlyfsTer20
NM_001077401.1:c.433del	NP_001070869.1:p.Arg145GlyfsTer20
XM_005269235.2:c.433del	XP_005269292.1:p.Arg145GlyfsTer20
XM_011539008.1:c.355+328del	XP_011537310.1:n.355+328del
XM_024449279.1:c.-257del	XP_024305047.1:n.-257del
NM_000020.3:c.433del MANE Select	NP_000011.2:p.Arg145GlyfsTer20
NM_001077401.2:c.433del	NP_001070869.1:p.Arg145GlyfsTer20