Canonical Allele Identifier: CA236367374

Gene: ACVRL1

Linked Data

• dbSNP Id: rs940052080
• gnomAD v3: 12-51920266-G-GGCT
• gnomAD v4: 12-51920266-G-GGCT
• MyVariant Identifiers: chr12:g.52314050_52314051insGCT (hg19) ; chr12:g.51920266_51920267insGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920268_51920270dup , CM000674.2:g.51920268_51920270dup	GRCh38
NC_000012.11:g.52314052_52314054dup , CM000674.1:g.52314052_52314054dup	GRCh37
NC_000012.10:g.50600319_50600321dup	NCBI36
NG_009549.1:g.17851_17853dup , LRG_543:g.17851_17853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-491_1108-489dup	ENSP00000446724.2:n.1108-491_1108-489dup
ENST00000551576.6:c.1378-491_1378-489dup	ENSP00000455848.2:n.1378-491_1378-489dup
ENST00000388922.9:c.1378-491_1378-489dup MANE Select	ENSP00000373574.4:n.1378-491_1378-489dup
ENST00000388922.8:c.1378-491_1378-489dup	ENSP00000373574.4:n.1378-491_1378-489dup
ENST00000419526.6:c.856-491_856-489dup	ENSP00000392492.2:n.856-491_856-489dup
ENST00000550683.5:c.1420-491_1420-489dup	ENSP00000447884.1:n.1420-491_1420-489dup
NM_000020.2:c.1378-491_1378-489dup , LRG_543t1:c.1378-491_1378-489dup	NP_000011.2:n.1378-491_1378-489dup
NM_001077401.1:c.1378-491_1378-489dup	NP_001070869.1:n.1378-491_1378-489dup
XM_005269235.2:c.1378-491_1378-489dup	XP_005269292.1:n.1378-491_1378-489dup
XM_011539008.1:c.1108-491_1108-489dup	XP_011537310.1:n.1108-491_1108-489dup
XM_024449279.1:c.589-491_589-489dup	XP_024305047.1:n.589-491_589-489dup
NM_000020.3:c.1378-491_1378-489dup MANE Select	NP_000011.2:n.1378-491_1378-489dup
NM_001077401.2:c.1378-491_1378-489dup	NP_001070869.1:n.1378-491_1378-489dup