Canonical Allele Identifier: CA2695216728

Gene: ACVRL1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920809dup , CM000674.2:g.51920809dup	GRCh38
NC_000012.11:g.52314593dup , CM000674.1:g.52314593dup	GRCh37
NC_000012.10:g.50600860dup	NCBI36
NG_009549.1:g.18392dup , LRG_543:g.18392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1158dup	ENSP00000446724.2:p.Ser387LeufsTer17
ENST00000551576.6:c.1428dup	ENSP00000455848.2:p.Ser477LeufsTer17
ENST00000388922.9:c.1428dup MANE Select	ENSP00000373574.4:p.Ser477LeufsTer17
ENST00000388922.8:c.1428dup	ENSP00000373574.4:p.Ser477LeufsTer17
ENST00000419526.6:c.906dup	ENSP00000392492.2:p.Ser303LeufsTer17
ENST00000550683.5:c.1470dup	ENSP00000447884.1:p.Ser491LeufsTer17
NM_000020.2:c.1428dup , LRG_543t1:c.1428dup	NP_000011.2:p.Ser477LeufsTer17
NM_001077401.1:c.1428dup	NP_001070869.1:p.Ser477LeufsTer17
XM_005269235.2:c.1428dup	XP_005269292.1:p.Ser477LeufsTer17
XM_011539008.1:c.1158dup	XP_011537310.1:p.Ser387LeufsTer17
XM_024449279.1:c.639dup	XP_024305047.1:p.Ser214LeufsTer17
NM_000020.3:c.1428dup MANE Select	NP_000011.2:p.Ser477LeufsTer17
NM_001077401.2:c.1428dup	NP_001070869.1:p.Ser477LeufsTer17