Canonical Allele Identifier: CA2580086484

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2026400
• ClinVar RCV Id: RCV002871341

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915414_51915415del , CM000674.2:g.51915414_51915415del	GRCh38
NC_000012.11:g.52309198_52309199del , CM000674.1:g.52309198_52309199del	GRCh37
NC_000012.10:g.50595465_50595466del	NCBI36
NG_009549.1:g.12997_12998del , LRG_543:g.12997_12998del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.692_693del	ENSP00000446724.2:p.Gln231ArgfsTer?
ENST00000551576.6:c.962_963del	ENSP00000455848.2:p.Gln321ArgfsTer?
ENST00000552678.2:c.962_963del	ENSP00000457394.2:p.Gln321ArgfsTer?
ENST00000388922.9:c.962_963del MANE Select	ENSP00000373574.4:p.Gln321ArgfsTer?
ENST00000388922.8:c.962_963del	ENSP00000373574.4:p.Gln321ArgfsTer?
ENST00000419526.6:c.440_441del	ENSP00000392492.2:p.Gln147ArgfsTer?
ENST00000550683.5:c.1004_1005del	ENSP00000447884.1:p.Gln335ArgfsTer?
NM_000020.2:c.962_963del , LRG_543t1:c.962_963del	NP_000011.2:p.Gln321ArgfsTer?
NM_001077401.1:c.962_963del	NP_001070869.1:p.Gln321ArgfsTer?
XM_005269235.2:c.962_963del	XP_005269292.1:p.Gln321ArgfsTer?
XM_011539008.1:c.692_693del	XP_011537310.1:p.Gln231ArgfsTer?
XM_024449279.1:c.173_174del	XP_024305047.1:p.Gln58ArgfsTer?
NM_000020.3:c.962_963del MANE Select	NP_000011.2:p.Gln321ArgfsTer?
NM_001077401.2:c.962_963del	NP_001070869.1:p.Gln321ArgfsTer?