Canonical Allele Identifier: CA605053030

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1375580979
• gnomAD v2: 12-52314052-C-CTGA
• gnomAD v3: 12-51920268-C-CTGA
• gnomAD v4: 12-51920268-C-CTGA
• MyVariant Identifiers: chr12:g.52314052_52314053insTGA (hg19) ; chr12:g.51920268_51920269insTGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920270_51920271insATG , CM000674.2:g.51920270_51920271insATG	GRCh38
NC_000012.11:g.52314054_52314055insATG , CM000674.1:g.52314054_52314055insATG	GRCh37
NC_000012.10:g.50600321_50600322insATG	NCBI36
NG_009549.1:g.17853_17854insATG , LRG_543:g.17853_17854insATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.1108-489_1108-488insATG	ENSP00000446724.2:n.1108-489_1108-488insATG
ENST00000551576.6:c.1378-489_1378-488insATG	ENSP00000455848.2:n.1378-489_1378-488insATG
ENST00000388922.9:c.1378-489_1378-488insATG MANE Select	ENSP00000373574.4:n.1378-489_1378-488insATG
ENST00000388922.8:c.1378-489_1378-488insATG	ENSP00000373574.4:n.1378-489_1378-488insATG
ENST00000419526.6:c.856-489_856-488insATG	ENSP00000392492.2:n.856-489_856-488insATG
ENST00000550683.5:c.1420-489_1420-488insATG	ENSP00000447884.1:n.1420-489_1420-488insATG
NM_000020.2:c.1378-489_1378-488insATG , LRG_543t1:c.1378-489_1378-488insATG	NP_000011.2:n.1378-489_1378-488insATG
NM_001077401.1:c.1378-489_1378-488insATG	NP_001070869.1:n.1378-489_1378-488insATG
XM_005269235.2:c.1378-489_1378-488insATG	XP_005269292.1:n.1378-489_1378-488insATG
XM_011539008.1:c.1108-489_1108-488insATG	XP_011537310.1:n.1108-489_1108-488insATG
XM_024449279.1:c.589-489_589-488insATG	XP_024305047.1:n.589-489_589-488insATG
NM_000020.3:c.1378-489_1378-488insATG MANE Select	NP_000011.2:n.1378-489_1378-488insATG
NM_001077401.2:c.1378-489_1378-488insATG	NP_001070869.1:n.1378-489_1378-488insATG