Canonical Allele Identifier: CA919088160

Gene: ACVRL1

Linked Data

• dbSNP Id: rs775088273
• gnomAD v3: 12-51920711-A-ATC
• gnomAD v4: 12-51920711-A-ATC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920721_51920722dup , CM000674.2:g.51920721_51920722dup	GRCh38
NC_000012.11:g.52314505_52314506dup , CM000674.1:g.52314505_52314506dup	GRCh37
NC_000012.10:g.50600772_50600773dup	NCBI36
NG_009549.1:g.18304_18305dup , LRG_543:g.18304_18305dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-38_1108-37dup	ENSP00000446724.2:n.1108-38_1108-37dup
ENST00000551576.6:c.1378-38_1378-37dup	ENSP00000455848.2:n.1378-38_1378-37dup
ENST00000388922.9:c.1378-38_1378-37dup MANE Select	ENSP00000373574.4:n.1378-38_1378-37dup
ENST00000388922.8:c.1378-38_1378-37dup	ENSP00000373574.4:n.1378-38_1378-37dup
ENST00000419526.6:c.856-38_856-37dup	ENSP00000392492.2:n.856-38_856-37dup
ENST00000550683.5:c.1420-38_1420-37dup	ENSP00000447884.1:n.1420-38_1420-37dup
NM_000020.2:c.1378-38_1378-37dup , LRG_543t1:c.1378-38_1378-37dup	NP_000011.2:n.1378-38_1378-37dup
NM_001077401.1:c.1378-38_1378-37dup	NP_001070869.1:n.1378-38_1378-37dup
XM_005269235.2:c.1378-38_1378-37dup	XP_005269292.1:n.1378-38_1378-37dup
XM_011539008.1:c.1108-38_1108-37dup	XP_011537310.1:n.1108-38_1108-37dup
XM_024449279.1:c.589-38_589-37dup	XP_024305047.1:n.589-38_589-37dup
NM_000020.3:c.1378-38_1378-37dup MANE Select	NP_000011.2:n.1378-38_1378-37dup
NM_001077401.2:c.1378-38_1378-37dup	NP_001070869.1:n.1378-38_1378-37dup