Canonical Allele Identifier: CA2575161239

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912360del , CM000674.2:g.51912360del	GRCh38
NC_000012.11:g.52306144del , CM000674.1:g.52306144del	GRCh37
NC_000012.10:g.50592411del	NCBI36
NG_009549.1:g.9943del , LRG_543:g.9943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.-73del	ENSP00000446724.2:n.-73del
ENST00000551576.6:c.-5-110del	ENSP00000455848.2:n.-5-110del
ENST00000552678.2:c.-5-110del	ENSP00000457394.2:n.-5-110del
ENST00000388922.9:c.-5-110del MANE Select	ENSP00000373574.4:n.-5-110del
ENST00000388922.8:c.-5-110del	ENSP00000373574.4:n.-5-110del
ENST00000547400.5:c.-73del	ENSP00000446724.1:n.-73del
ENST00000550683.5:c.-73del	ENSP00000447884.1:n.-73del
ENST00000551576.5:c.-5-110del	ENSP00000455848.1:n.-5-110del
NM_000020.2:c.-5-110del , LRG_543t1:c.-5-110del	NP_000011.2:n.-5-110del
NM_001077401.1:c.-115del	NP_001070869.1:n.-115del
XM_005269235.2:c.-5-110del	XP_005269292.1:n.-5-110del
XM_011539008.1:c.-73del	XP_011537310.1:n.-73del
NM_000020.3:c.-5-110del MANE Select	NP_000011.2:n.-5-110del