Canonical Allele Identifier: CA2618855670

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912213-AGGGTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912214_51912219del , CM000674.2:g.51912214_51912219del	GRCh38
NC_000012.11:g.52305998_52306003del , CM000674.1:g.52305998_52306003del	GRCh37
NC_000012.10:g.50592265_50592270del	NCBI36
NG_009549.1:g.9797_9802del , LRG_543:g.9797_9802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-256_-5-251del	ENSP00000455848.2:n.-5-256_-5-251del
ENST00000552678.2:c.-5-256_-5-251del	ENSP00000457394.2:n.-5-256_-5-251del
ENST00000388922.9:c.-5-256_-5-251del MANE Select	ENSP00000373574.4:n.-5-256_-5-251del
ENST00000388922.8:c.-5-256_-5-251del	ENSP00000373574.4:n.-5-256_-5-251del
ENST00000551576.5:c.-5-256_-5-251del	ENSP00000455848.1:n.-5-256_-5-251del
NM_000020.2:c.-5-256_-5-251del , LRG_543t1:c.-5-256_-5-251del	NP_000011.2:n.-5-256_-5-251del
XM_005269235.2:c.-5-256_-5-251del	XP_005269292.1:n.-5-256_-5-251del
NM_000020.3:c.-5-256_-5-251del MANE Select	NP_000011.2:n.-5-256_-5-251del