Canonical Allele Identifier: CA2580086416

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1782276
• ClinVar RCV Id: RCV002408231

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912492dup , CM000674.2:g.51912492dup	GRCh38
NC_000012.11:g.52306276dup , CM000674.1:g.52306276dup	GRCh37
NC_000012.10:g.50592543dup	NCBI36
NG_009549.1:g.10075dup , LRG_543:g.10075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.60dup	ENSP00000446724.2:p.Arg21GlnfsTer?
ENST00000551576.6:c.18dup	ENSP00000455848.2:p.Arg7GlnfsTer?
ENST00000552678.2:c.18dup	ENSP00000457394.2:p.Arg7GlnfsTer?
ENST00000388922.9:c.18dup MANE Select	ENSP00000373574.4:p.Arg7GlnfsTer?
ENST00000388922.8:c.18dup	ENSP00000373574.4:p.Arg7GlnfsTer?
ENST00000419526.6:c.60dup	ENSP00000392492.2:p.Arg21GlnfsTer30
ENST00000547400.5:c.60dup	ENSP00000446724.1:p.Arg21GlnfsTer?
ENST00000550683.5:c.60dup	ENSP00000447884.1:p.Arg21GlnfsTer?
ENST00000551576.5:c.18dup	ENSP00000455848.1:p.Arg7GlnfsTer?
NM_000020.2:c.18dup , LRG_543t1:c.18dup	NP_000011.2:p.Arg7GlnfsTer?
NM_001077401.1:c.18dup	NP_001070869.1:p.Arg7GlnfsTer?
XM_005269235.2:c.18dup	XP_005269292.1:p.Arg7GlnfsTer?
XM_011539008.1:c.60dup	XP_011537310.1:p.Arg21GlnfsTer?
NM_000020.3:c.18dup MANE Select	NP_000011.2:p.Arg7GlnfsTer?
NM_001077401.2:c.18dup	NP_001070869.1:p.Arg7GlnfsTer?