Canonical Allele Identifier: CA2697559265

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2687473
• ClinVar RCV Id: RCV003484235

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913217del , CM000674.2:g.51913217del	GRCh38
NC_000012.11:g.52307001del , CM000674.1:g.52307001del	GRCh37
NC_000012.10:g.50593268del	NCBI36
NG_009549.1:g.10800del , LRG_543:g.10800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.222del	ENSP00000446724.2:p.Arg75GlyfsTer?
ENST00000551576.6:c.180del	ENSP00000455848.2:p.Arg61GlyfsTer?
ENST00000552678.2:c.180del	ENSP00000457394.2:p.Arg61GlyfsTer?
ENST00000388922.9:c.180del MANE Select	ENSP00000373574.4:p.Arg61GlyfsTer?
ENST00000388922.8:c.180del	ENSP00000373574.4:p.Arg61GlyfsTer?
ENST00000419526.6:c.103+682del	ENSP00000392492.2:n.103+682del
ENST00000547400.5:c.222del	ENSP00000446724.1:p.Arg75GlyfsTer?
ENST00000550683.5:c.222del	ENSP00000447884.1:p.Arg75GlyfsTer?
ENST00000551576.5:c.180del	ENSP00000455848.1:p.Arg61GlyfsTer?
NM_000020.2:c.180del , LRG_543t1:c.180del	NP_000011.2:p.Arg61GlyfsTer?
NM_001077401.1:c.180del	NP_001070869.1:p.Arg61GlyfsTer?
XM_005269235.2:c.180del	XP_005269292.1:p.Arg61GlyfsTer?
XM_011539008.1:c.222del	XP_011537310.1:p.Arg75GlyfsTer?
NM_000020.3:c.180del MANE Select	NP_000011.2:p.Arg61GlyfsTer?
NM_001077401.2:c.180del	NP_001070869.1:p.Arg61GlyfsTer?