Canonical Allele Identifier: CA2695216745

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51915365del , CM000674.2:g.51915365del	GRCh38
NC_000012.11:g.52309149del , CM000674.1:g.52309149del	GRCh37
NC_000012.10:g.50595416del	NCBI36
NG_009549.1:g.12948del , LRG_543:g.12948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.643del	ENSP00000446724.2:p.Ser215ProfsTer?
ENST00000551576.6:c.913del	ENSP00000455848.2:p.Ser305ProfsTer?
ENST00000552678.2:c.913del	ENSP00000457394.2:p.Ser305ProfsTer?
ENST00000388922.9:c.913del MANE Select	ENSP00000373574.4:p.Ser305ProfsTer?
ENST00000388922.8:c.913del	ENSP00000373574.4:p.Ser305ProfsTer?
ENST00000419526.6:c.391del	ENSP00000392492.2:p.Ser131ProfsTer?
ENST00000550683.5:c.955del	ENSP00000447884.1:p.Ser319ProfsTer?
NM_000020.2:c.913del , LRG_543t1:c.913del	NP_000011.2:p.Ser305ProfsTer?
NM_001077401.1:c.913del	NP_001070869.1:p.Ser305ProfsTer?
XM_005269235.2:c.913del	XP_005269292.1:p.Ser305ProfsTer?
XM_011539008.1:c.643del	XP_011537310.1:p.Ser215ProfsTer?
XM_024449279.1:c.124del	XP_024305047.1:p.Ser42ProfsTer?
NM_000020.3:c.913del MANE Select	NP_000011.2:p.Ser305ProfsTer?
NM_001077401.2:c.913del	NP_001070869.1:p.Ser305ProfsTer?