Canonical Allele Identifier: CA2695216730

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920820_51920887del , CM000674.2:g.51920820_51920887del	GRCh38
NC_000012.11:g.52314604_52314671del , CM000674.1:g.52314604_52314671del	GRCh37
NC_000012.10:g.50600871_50600938del	NCBI36
NG_009549.1:g.18403_18470del , LRG_543:g.18403_18470del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1169_1236del	ENSP00000446724.2:p.Leu390ProfsTer?
ENST00000551576.6:c.1439_1506del	ENSP00000455848.2:p.Leu480ProfsTer?
ENST00000388922.9:c.1439_1506del MANE Select	ENSP00000373574.4:p.Leu480ProfsTer?
ENST00000388922.8:c.1439_1506del	ENSP00000373574.4:p.Leu480ProfsTer?
ENST00000419526.6:c.917_984del	ENSP00000392492.2:p.Leu306ProfsTer?
ENST00000550683.5:c.1481_1548del	ENSP00000447884.1:p.Leu494ProfsTer?
NM_000020.2:c.1439_1506del , LRG_543t1:c.1439_1506del	NP_000011.2:p.Leu480ProfsTer?
NM_001077401.1:c.1439_1506del	NP_001070869.1:p.Leu480ProfsTer?
XM_005269235.2:c.1439_1506del	XP_005269292.1:p.Leu480ProfsTer?
XM_011539008.1:c.1169_1236del	XP_011537310.1:p.Leu390ProfsTer?
XM_024449279.1:c.650_717del	XP_024305047.1:p.Leu217ProfsTer?
NM_000020.3:c.1439_1506del MANE Select	NP_000011.2:p.Leu480ProfsTer?
NM_001077401.2:c.1439_1506del	NP_001070869.1:p.Leu480ProfsTer?