Canonical Allele Identifier: CA479804306

Gene: ACVRL1

Linked Data

• COSMIC: COSM1684325 ; COSM2009956 ; COSM4334481
• MyVariant Identifiers: chr12:g.52306276del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912492del , CM000674.2:g.51912492del	GRCh38
NC_000012.11:g.52306276del , CM000674.1:g.52306276del	GRCh37
NC_000012.10:g.50592543del	NCBI36
NG_009549.1:g.10075del , LRG_543:g.10075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.60del	ENSP00000446724.2:p.Arg21GlyfsTer5
ENST00000551576.6:c.18del	ENSP00000455848.2:p.Arg7GlyfsTer5
ENST00000552678.2:c.18del	ENSP00000457394.2:p.Arg7GlyfsTer5
ENST00000388922.9:c.18del MANE Select	ENSP00000373574.4:p.Arg7GlyfsTer5
ENST00000388922.8:c.18del	ENSP00000373574.4:p.Arg7GlyfsTer5
ENST00000419526.6:c.60del	ENSP00000392492.2:p.Arg21GlyfsTer5
ENST00000547400.5:c.60del	ENSP00000446724.1:p.Arg21GlyfsTer5
ENST00000550683.5:c.60del	ENSP00000447884.1:p.Arg21GlyfsTer5
ENST00000551576.5:c.18del	ENSP00000455848.1:p.Arg7GlyfsTer5
NM_000020.2:c.18del , LRG_543t1:c.18del	NP_000011.2:p.Arg7GlyfsTer5
NM_001077401.1:c.18del	NP_001070869.1:p.Arg7GlyfsTer5
XM_005269235.2:c.18del	XP_005269292.1:p.Arg7GlyfsTer5
XM_011539008.1:c.60del	XP_011537310.1:p.Arg21GlyfsTer5
NM_000020.3:c.18del MANE Select	NP_000011.2:p.Arg7GlyfsTer5
NM_001077401.2:c.18del	NP_001070869.1:p.Arg7GlyfsTer5