Canonical Allele Identifier: CA2825002088

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 3076067
• ClinVar RCV Id: RCV004018385

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915304_51915305del , CM000674.2:g.51915304_51915305del	GRCh38
NC_000012.11:g.52309088_52309089del , CM000674.1:g.52309088_52309089del	GRCh37
NC_000012.10:g.50595355_50595356del	NCBI36
NG_009549.1:g.12887_12888del , LRG_543:g.12887_12888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.582_583del	ENSP00000446724.2:p.Tyr196ArgfsTer?
ENST00000551576.6:c.852_853del	ENSP00000455848.2:p.Tyr286ArgfsTer?
ENST00000552678.2:c.852_853del	ENSP00000457394.2:p.Tyr286ArgfsTer?
ENST00000388922.9:c.852_853del MANE Select	ENSP00000373574.4:p.Tyr286ArgfsTer?
ENST00000388922.8:c.852_853del	ENSP00000373574.4:p.Tyr286ArgfsTer?
ENST00000419526.6:c.330_331del	ENSP00000392492.2:p.Tyr112ArgfsTer?
ENST00000550683.5:c.894_895del	ENSP00000447884.1:p.Tyr300ArgfsTer?
NM_000020.2:c.852_853del , LRG_543t1:c.852_853del	NP_000011.2:p.Tyr286ArgfsTer?
NM_001077401.1:c.852_853del	NP_001070869.1:p.Tyr286ArgfsTer?
XM_005269235.2:c.852_853del	XP_005269292.1:p.Tyr286ArgfsTer?
XM_011539008.1:c.582_583del	XP_011537310.1:p.Tyr196ArgfsTer?
XM_024449279.1:c.63_64del	XP_024305047.1:p.Tyr23ArgfsTer?
NM_000020.3:c.852_853del MANE Select	NP_000011.2:p.Tyr286ArgfsTer?
NM_001077401.2:c.852_853del	NP_001070869.1:p.Tyr286ArgfsTer?