Canonical Allele Identifier: CA2618860249

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51920664-A-ACC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920666_51920667dup , CM000674.2:g.51920666_51920667dup	GRCh38
NC_000012.11:g.52314450_52314451dup , CM000674.1:g.52314450_52314451dup	GRCh37
NC_000012.10:g.50600717_50600718dup	NCBI36
NG_009549.1:g.18249_18250dup , LRG_543:g.18249_18250dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1108-93_1108-92dup	ENSP00000446724.2:n.1108-93_1108-92dup
ENST00000551576.6:c.1378-93_1378-92dup	ENSP00000455848.2:n.1378-93_1378-92dup
ENST00000388922.9:c.1378-93_1378-92dup MANE Select	ENSP00000373574.4:n.1378-93_1378-92dup
ENST00000388922.8:c.1378-93_1378-92dup	ENSP00000373574.4:n.1378-93_1378-92dup
ENST00000419526.6:c.856-93_856-92dup	ENSP00000392492.2:n.856-93_856-92dup
ENST00000550683.5:c.1420-93_1420-92dup	ENSP00000447884.1:n.1420-93_1420-92dup
NM_000020.2:c.1378-93_1378-92dup , LRG_543t1:c.1378-93_1378-92dup	NP_000011.2:n.1378-93_1378-92dup
NM_001077401.1:c.1378-93_1378-92dup	NP_001070869.1:n.1378-93_1378-92dup
XM_005269235.2:c.1378-93_1378-92dup	XP_005269292.1:n.1378-93_1378-92dup
XM_011539008.1:c.1108-93_1108-92dup	XP_011537310.1:n.1108-93_1108-92dup
XM_024449279.1:c.589-93_589-92dup	XP_024305047.1:n.589-93_589-92dup
NM_000020.3:c.1378-93_1378-92dup MANE Select	NP_000011.2:n.1378-93_1378-92dup
NM_001077401.2:c.1378-93_1378-92dup	NP_001070869.1:n.1378-93_1378-92dup