Canonical Allele Identifier: CA2825002087

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 3076019
• ClinVar RCV Id: RCV004018337

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913649del , CM000674.2:g.51913649del	GRCh38
NC_000012.11:g.52307433del , CM000674.1:g.52307433del	GRCh37
NC_000012.10:g.50593700del	NCBI36
NG_009549.1:g.11232del , LRG_543:g.11232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+299del	ENSP00000446724.2:n.355+299del
ENST00000551576.6:c.404del	ENSP00000455848.2:p.Leu135ArgfsTer30
ENST00000552678.2:c.404del	ENSP00000457394.2:p.Leu135ArgfsTer30
ENST00000388922.9:c.404del MANE Select	ENSP00000373574.4:p.Leu135ArgfsTer30
ENST00000388922.8:c.404del	ENSP00000373574.4:p.Leu135ArgfsTer30
ENST00000419526.6:c.104-790del	ENSP00000392492.2:n.104-790del
ENST00000547400.5:c.355+299del	ENSP00000446724.1:n.355+299del
ENST00000550683.5:c.446del	ENSP00000447884.1:p.Leu149ArgfsTer30
NM_000020.2:c.404del , LRG_543t1:c.404del	NP_000011.2:p.Leu135ArgfsTer30
NM_001077401.1:c.404del	NP_001070869.1:p.Leu135ArgfsTer30
XM_005269235.2:c.404del	XP_005269292.1:p.Leu135ArgfsTer30
XM_011539008.1:c.355+299del	XP_011537310.1:n.355+299del
XM_024449279.1:c.-286del	XP_024305047.1:n.-286del
NM_000020.3:c.404del MANE Select	NP_000011.2:p.Leu135ArgfsTer30
NM_001077401.2:c.404del	NP_001070869.1:p.Leu135ArgfsTer30