Canonical Allele Identifier: CA2580086439

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 2036707
• ClinVar RCV Id: RCV002899347

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920789dup , CM000674.2:g.51920789dup	GRCh38
NC_000012.11:g.52314573dup , CM000674.1:g.52314573dup	GRCh37
NC_000012.10:g.50600840dup	NCBI36
NG_009549.1:g.18372dup , LRG_543:g.18372dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1138dup	ENSP00000446724.2:p.Glu380GlyfsTer24
ENST00000551576.6:c.1408dup	ENSP00000455848.2:p.Glu470GlyfsTer24
ENST00000388922.9:c.1408dup MANE Select	ENSP00000373574.4:p.Glu470GlyfsTer24
ENST00000388922.8:c.1408dup	ENSP00000373574.4:p.Glu470GlyfsTer24
ENST00000419526.6:c.886dup	ENSP00000392492.2:p.Glu296GlyfsTer24
ENST00000550683.5:c.1450dup	ENSP00000447884.1:p.Glu484GlyfsTer24
NM_000020.2:c.1408dup , LRG_543t1:c.1408dup	NP_000011.2:p.Glu470GlyfsTer24
NM_001077401.1:c.1408dup	NP_001070869.1:p.Glu470GlyfsTer24
XM_005269235.2:c.1408dup	XP_005269292.1:p.Glu470GlyfsTer24
XM_011539008.1:c.1138dup	XP_011537310.1:p.Glu380GlyfsTer24
XM_024449279.1:c.619dup	XP_024305047.1:p.Glu207GlyfsTer24
NM_000020.3:c.1408dup MANE Select	NP_000011.2:p.Glu470GlyfsTer24
NM_001077401.2:c.1408dup	NP_001070869.1:p.Glu470GlyfsTer24