Canonical Allele Identifier: CA2739272047

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2841312
• ClinVar RCV Id: RCV003621147

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915241del , CM000674.2:g.51915241del	GRCh38
NC_000012.11:g.52309025del , CM000674.1:g.52309025del	GRCh37
NC_000012.10:g.50595292del	NCBI36
NG_009549.1:g.12824del , LRG_543:g.12824del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.519del	ENSP00000446724.2:p.Asp173GlufsTer2
ENST00000551576.6:c.789del	ENSP00000455848.2:p.Asp263GlufsTer2
ENST00000552678.2:c.789del	ENSP00000457394.2:p.Asp263GlufsTer2
ENST00000388922.9:c.789del MANE Select	ENSP00000373574.4:p.Asp263GlufsTer2
ENST00000388922.8:c.789del	ENSP00000373574.4:p.Asp263GlufsTer2
ENST00000419526.6:c.267del	ENSP00000392492.2:p.Asp89GlufsTer2
ENST00000550683.5:c.831del	ENSP00000447884.1:p.Asp277GlufsTer2
NM_000020.2:c.789del , LRG_543t1:c.789del	NP_000011.2:p.Asp263GlufsTer2
NM_001077401.1:c.789del	NP_001070869.1:p.Asp263GlufsTer2
XM_005269235.2:c.789del	XP_005269292.1:p.Asp263GlufsTer2
XM_011539008.1:c.519del	XP_011537310.1:p.Asp173GlufsTer2
XM_024449279.1:c.-1del	XP_024305047.1:n.-1del
NM_000020.3:c.789del MANE Select	NP_000011.2:p.Asp263GlufsTer2
NM_001077401.2:c.789del	NP_001070869.1:p.Asp263GlufsTer2