Canonical Allele Identifier: CA2695216741

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915294del , CM000674.2:g.51915294del	GRCh38
NC_000012.11:g.52309078del , CM000674.1:g.52309078del	GRCh37
NC_000012.10:g.50595345del	NCBI36
NG_009549.1:g.12877del , LRG_543:g.12877del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.572del	ENSP00000446724.2:p.Glu191GlyfsTer20
ENST00000551576.6:c.842del	ENSP00000455848.2:p.Glu281GlyfsTer20
ENST00000552678.2:c.842del	ENSP00000457394.2:p.Glu281GlyfsTer20
ENST00000388922.9:c.842del MANE Select	ENSP00000373574.4:p.Glu281GlyfsTer20
ENST00000388922.8:c.842del	ENSP00000373574.4:p.Glu281GlyfsTer20
ENST00000419526.6:c.320del	ENSP00000392492.2:p.Glu107GlyfsTer20
ENST00000550683.5:c.884del	ENSP00000447884.1:p.Glu295GlyfsTer20
NM_000020.2:c.842del , LRG_543t1:c.842del	NP_000011.2:p.Glu281GlyfsTer20
NM_001077401.1:c.842del	NP_001070869.1:p.Glu281GlyfsTer20
XM_005269235.2:c.842del	XP_005269292.1:p.Glu281GlyfsTer20
XM_011539008.1:c.572del	XP_011537310.1:p.Glu191GlyfsTer20
XM_024449279.1:c.53del	XP_024305047.1:p.Glu18GlyfsTer20
NM_000020.3:c.842del MANE Select	NP_000011.2:p.Glu281GlyfsTer20
NM_001077401.2:c.842del	NP_001070869.1:p.Glu281GlyfsTer20