Canonical Allele Identifier: CA2580086482

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1765461
• ClinVar RCV Id: RCV002376384

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915352del , CM000674.2:g.51915352del	GRCh38
NC_000012.11:g.52309136del , CM000674.1:g.52309136del	GRCh37
NC_000012.10:g.50595403del	NCBI36
NG_009549.1:g.12935del , LRG_543:g.12935del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.630del	ENSP00000446724.2:p.Arg211GlyfsTer2
ENST00000551576.6:c.900del	ENSP00000455848.2:p.Arg301GlyfsTer2
ENST00000552678.2:c.900del	ENSP00000457394.2:p.Arg301GlyfsTer2
ENST00000388922.9:c.900del MANE Select	ENSP00000373574.4:p.Arg301GlyfsTer2
ENST00000388922.8:c.900del	ENSP00000373574.4:p.Arg301GlyfsTer2
ENST00000419526.6:c.378del	ENSP00000392492.2:p.Arg127GlyfsTer2
ENST00000550683.5:c.942del	ENSP00000447884.1:p.Arg315GlyfsTer2
NM_000020.2:c.900del , LRG_543t1:c.900del	NP_000011.2:p.Arg301GlyfsTer2
NM_001077401.1:c.900del	NP_001070869.1:p.Arg301GlyfsTer2
XM_005269235.2:c.900del	XP_005269292.1:p.Arg301GlyfsTer2
XM_011539008.1:c.630del	XP_011537310.1:p.Arg211GlyfsTer2
XM_024449279.1:c.111del	XP_024305047.1:p.Arg38GlyfsTer2
NM_000020.3:c.900del MANE Select	NP_000011.2:p.Arg301GlyfsTer2
NM_001077401.2:c.900del	NP_001070869.1:p.Arg301GlyfsTer2