Canonical Allele Identifier: CA2575161245

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912368-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912370del , CM000674.2:g.51912370del	GRCh38
NC_000012.11:g.52306154del , CM000674.1:g.52306154del	GRCh37
NC_000012.10:g.50592421del	NCBI36
NG_009549.1:g.9953del , LRG_543:g.9953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-63del	ENSP00000446724.2:n.-63del
ENST00000551576.6:c.-5-100del	ENSP00000455848.2:n.-5-100del
ENST00000552678.2:c.-5-100del	ENSP00000457394.2:n.-5-100del
ENST00000388922.9:c.-5-100del MANE Select	ENSP00000373574.4:n.-5-100del
ENST00000388922.8:c.-5-100del	ENSP00000373574.4:n.-5-100del
ENST00000547400.5:c.-63del	ENSP00000446724.1:n.-63del
ENST00000550683.5:c.-63del	ENSP00000447884.1:n.-63del
ENST00000551576.5:c.-5-100del	ENSP00000455848.1:n.-5-100del
NM_000020.2:c.-5-100del , LRG_543t1:c.-5-100del	NP_000011.2:n.-5-100del
NM_001077401.1:c.-105del	NP_001070869.1:n.-105del
XM_005269235.2:c.-5-100del	XP_005269292.1:n.-5-100del
XM_011539008.1:c.-63del	XP_011537310.1:n.-63del
NM_000020.3:c.-5-100del MANE Select	NP_000011.2:n.-5-100del