Canonical Allele Identifier: CA919088106

Gene: ACVRL1

Linked Data

• dbSNP Id: rs1565595183
• gnomAD v4: 12-51916242-C-CCACCCTACA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916245_51916253dup , CM000674.2:g.51916245_51916253dup	GRCh38
NC_000012.11:g.52310029_52310037dup , CM000674.1:g.52310029_52310037dup	GRCh37
NC_000012.10:g.50596296_50596304dup	NCBI36
NG_009549.1:g.13828_13836dup , LRG_543:g.13828_13836dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.976+12_976+20dup	ENSP00000446724.2:n.976+12_976+20dup
ENST00000551576.6:c.1246+12_1246+20dup	ENSP00000455848.2:n.1246+12_1246+20dup
ENST00000552678.2:c.1246+12_1246+20dup	ENSP00000457394.2:n.1246+12_1246+20dup
ENST00000388922.9:c.1246+12_1246+20dup MANE Select	ENSP00000373574.4:n.1246+12_1246+20dup
ENST00000388922.8:c.1246+12_1246+20dup	ENSP00000373574.4:n.1246+12_1246+20dup
ENST00000419526.6:c.724+12_724+20dup	ENSP00000392492.2:n.724+12_724+20dup
ENST00000547632.1:n.521+12_521+20dup
ENST00000550683.5:c.1288+12_1288+20dup	ENSP00000447884.1:n.1288+12_1288+20dup
ENST00000552678.1:c.251+12_251+20dup
NM_000020.2:c.1246+12_1246+20dup , LRG_543t1:c.1246+12_1246+20dup	NP_000011.2:n.1246+12_1246+20dup
NM_001077401.1:c.1246+12_1246+20dup	NP_001070869.1:n.1246+12_1246+20dup
XM_005269235.2:c.1246+12_1246+20dup	XP_005269292.1:n.1246+12_1246+20dup
XM_011539008.1:c.976+12_976+20dup	XP_011537310.1:n.976+12_976+20dup
XM_024449279.1:c.457+12_457+20dup	XP_024305047.1:n.457+12_457+20dup
NM_000020.3:c.1246+12_1246+20dup MANE Select	NP_000011.2:n.1246+12_1246+20dup
NM_001077401.2:c.1246+12_1246+20dup	NP_001070869.1:n.1246+12_1246+20dup