Canonical Allele Identifier: CA689763010

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1239824332
• gnomAD v3: 12-51912378-ACT-A
• gnomAD v4: 12-51912378-ACT-A
• MyVariant Identifiers: chr12:g.52306163_52306164del (hg19) ; chr12:g.51912379_51912380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912381_51912382del , CM000674.2:g.51912381_51912382del	GRCh38
NC_000012.11:g.52306165_52306166del , CM000674.1:g.52306165_52306166del	GRCh37
NC_000012.10:g.50592432_50592433del	NCBI36
NG_009549.1:g.9964_9965del , LRG_543:g.9964_9965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-52_-51del	ENSP00000446724.2:n.-52_-51del
ENST00000551576.6:c.-5-89_-5-88del	ENSP00000455848.2:n.-5-89_-5-88del
ENST00000552678.2:c.-5-89_-5-88del	ENSP00000457394.2:n.-5-89_-5-88del
ENST00000388922.9:c.-5-89_-5-88del MANE Select	ENSP00000373574.4:n.-5-89_-5-88del
ENST00000388922.8:c.-5-89_-5-88del	ENSP00000373574.4:n.-5-89_-5-88del
ENST00000419526.6:c.-52_-51del	ENSP00000392492.2:n.-52_-51del
ENST00000547400.5:c.-52_-51del	ENSP00000446724.1:n.-52_-51del
ENST00000550683.5:c.-52_-51del	ENSP00000447884.1:n.-52_-51del
ENST00000551576.5:c.-5-89_-5-88del	ENSP00000455848.1:n.-5-89_-5-88del
NM_000020.2:c.-5-89_-5-88del , LRG_543t1:c.-5-89_-5-88del	NP_000011.2:n.-5-89_-5-88del
NM_001077401.1:c.-94_-93del	NP_001070869.1:n.-94_-93del
XM_005269235.2:c.-5-89_-5-88del	XP_005269292.1:n.-5-89_-5-88del
XM_011539008.1:c.-52_-51del	XP_011537310.1:n.-52_-51del
NM_000020.3:c.-5-89_-5-88del MANE Select	NP_000011.2:n.-5-89_-5-88del