Canonical Allele Identifier: CA2795983220

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51911977dup , CM000674.2:g.51911977dup	GRCh38
NC_000012.11:g.52305761dup , CM000674.1:g.52305761dup	GRCh37
NC_000012.10:g.50592028dup	NCBI36
NG_009549.1:g.9560dup , LRG_543:g.9560dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551576.6:c.-5-493dup	ENSP00000455848.2:n.-5-493dup
ENST00000552678.2:c.-5-493dup	ENSP00000457394.2:n.-5-493dup
ENST00000388922.9:c.-5-493dup MANE Select	ENSP00000373574.4:n.-5-493dup
ENST00000388922.8:c.-5-493dup	ENSP00000373574.4:n.-5-493dup
ENST00000551576.5:c.-5-493dup	ENSP00000455848.1:n.-5-493dup
NM_000020.2:c.-5-493dup , LRG_543t1:c.-5-493dup	NP_000011.2:n.-5-493dup
XM_005269235.2:c.-5-493dup	XP_005269292.1:n.-5-493dup
NM_000020.3:c.-5-493dup MANE Select	NP_000011.2:n.-5-493dup