Canonical Allele Identifier: CA2739272050

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2905206
• ClinVar RCV Id: RCV003620262

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915371del , CM000674.2:g.51915371del	GRCh38
NC_000012.11:g.52309155del , CM000674.1:g.52309155del	GRCh37
NC_000012.10:g.50595422del	NCBI36
NG_009549.1:g.12954del , LRG_543:g.12954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.649del	ENSP00000446724.2:p.Ala217HisfsTer?
ENST00000551576.6:c.919del	ENSP00000455848.2:p.Ala307HisfsTer?
ENST00000552678.2:c.919del	ENSP00000457394.2:p.Ala307HisfsTer?
ENST00000388922.9:c.919del MANE Select	ENSP00000373574.4:p.Ala307HisfsTer?
ENST00000388922.8:c.919del	ENSP00000373574.4:p.Ala307HisfsTer?
ENST00000419526.6:c.397del	ENSP00000392492.2:p.Ala133HisfsTer?
ENST00000550683.5:c.961del	ENSP00000447884.1:p.Ala321HisfsTer?
NM_000020.2:c.919del , LRG_543t1:c.919del	NP_000011.2:p.Ala307HisfsTer?
NM_001077401.1:c.919del	NP_001070869.1:p.Ala307HisfsTer?
XM_005269235.2:c.919del	XP_005269292.1:p.Ala307HisfsTer?
XM_011539008.1:c.649del	XP_011537310.1:p.Ala217HisfsTer?
XM_024449279.1:c.130del	XP_024305047.1:p.Ala44HisfsTer?
NM_000020.3:c.919del MANE Select	NP_000011.2:p.Ala307HisfsTer?
NM_001077401.2:c.919del	NP_001070869.1:p.Ala307HisfsTer?