Canonical Allele Identifier: CA689762833

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1286686454
• MyVariant Identifiers: chr12:g.52305786_52305805del (hg19) ; chr12:g.51912002_51912021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912002_51912021del , CM000674.2:g.51912002_51912021del	GRCh38
NC_000012.11:g.52305786_52305805del , CM000674.1:g.52305786_52305805del	GRCh37
NC_000012.10:g.50592053_50592072del	NCBI36
NG_009549.1:g.9585_9604del , LRG_543:g.9585_9604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-468_-5-449del	ENSP00000455848.2:n.-5-468_-5-449del
ENST00000552678.2:c.-5-468_-5-449del	ENSP00000457394.2:n.-5-468_-5-449del
ENST00000388922.9:c.-5-468_-5-449del MANE Select	ENSP00000373574.4:n.-5-468_-5-449del
ENST00000388922.8:c.-5-468_-5-449del	ENSP00000373574.4:n.-5-468_-5-449del
ENST00000551576.5:c.-5-468_-5-449del	ENSP00000455848.1:n.-5-468_-5-449del
NM_000020.2:c.-5-468_-5-449del , LRG_543t1:c.-5-468_-5-449del	NP_000011.2:n.-5-468_-5-449del
XM_005269235.2:c.-5-468_-5-449del	XP_005269292.1:n.-5-468_-5-449del
NM_000020.3:c.-5-468_-5-449del MANE Select	NP_000011.2:n.-5-468_-5-449del