Canonical Allele Identifier: CA891843493

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 568436
• ClinVar RCV Id: RCV000688794 ; RCV002388215
• dbSNP Id: rs863223415
• gnomAD v4: 12-51913176-CG-C
• MyVariant Identifiers: chr12:g.52306966del (hg19) ; chr12:g.51913182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913182del , CM000674.2:g.51913182del	GRCh38
NC_000012.11:g.52306966del , CM000674.1:g.52306966del	GRCh37
NC_000012.10:g.50593233del	NCBI36
NG_009549.1:g.10765del , LRG_543:g.10765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.187del	ENSP00000446724.2:p.Ala63ProfsTer5
ENST00000551576.6:c.145del	ENSP00000455848.2:p.Ala49ProfsTer5
ENST00000552678.2:c.145del	ENSP00000457394.2:p.Ala49ProfsTer5
ENST00000388922.9:c.145del MANE Select	ENSP00000373574.4:p.Ala49ProfsTer5
ENST00000388922.8:c.145del	ENSP00000373574.4:p.Ala49ProfsTer5
ENST00000419526.6:c.103+647del	ENSP00000392492.2:n.103+647del
ENST00000547400.5:c.187del	ENSP00000446724.1:p.Ala63ProfsTer5
ENST00000550683.5:c.187del	ENSP00000447884.1:p.Ala63ProfsTer5
ENST00000551576.5:c.145del	ENSP00000455848.1:p.Ala49ProfsTer5
NM_000020.2:c.145del , LRG_543t1:c.145del	NP_000011.2:p.Ala49ProfsTer5
NM_001077401.1:c.145del	NP_001070869.1:p.Ala49ProfsTer5
XM_005269235.2:c.145del	XP_005269292.1:p.Ala49ProfsTer5
XM_011539008.1:c.187del	XP_011537310.1:p.Ala63ProfsTer5
NM_000020.3:c.145del MANE Select	NP_000011.2:p.Ala49ProfsTer5
NM_001077401.2:c.145del	NP_001070869.1:p.Ala49ProfsTer5