Canonical Allele Identifier: CA2575161304

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51912620-A-AACT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51912621_51912623dup , CM000674.2:g.51912621_51912623dup	GRCh38
NC_000012.11:g.52306405_52306407dup , CM000674.1:g.52306405_52306407dup	GRCh37
NC_000012.10:g.50592672_50592674dup	NCBI36
NG_009549.1:g.10204_10206dup , LRG_543:g.10204_10206dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.103+86_103+88dup	ENSP00000446724.2:n.103+86_103+88dup
ENST00000551576.6:c.61+86_61+88dup	ENSP00000455848.2:n.61+86_61+88dup
ENST00000552678.2:c.61+86_61+88dup	ENSP00000457394.2:n.61+86_61+88dup
ENST00000388922.9:c.61+86_61+88dup MANE Select	ENSP00000373574.4:n.61+86_61+88dup
ENST00000388922.8:c.61+86_61+88dup	ENSP00000373574.4:n.61+86_61+88dup
ENST00000419526.6:c.103+86_103+88dup	ENSP00000392492.2:n.103+86_103+88dup
ENST00000547400.5:c.103+86_103+88dup	ENSP00000446724.1:n.103+86_103+88dup
ENST00000550683.5:c.103+86_103+88dup	ENSP00000447884.1:n.103+86_103+88dup
ENST00000551576.5:c.61+86_61+88dup	ENSP00000455848.1:n.61+86_61+88dup
NM_000020.2:c.61+86_61+88dup , LRG_543t1:c.61+86_61+88dup	NP_000011.2:n.61+86_61+88dup
NM_001077401.1:c.61+86_61+88dup	NP_001070869.1:n.61+86_61+88dup
XM_005269235.2:c.61+86_61+88dup	XP_005269292.1:n.61+86_61+88dup
XM_011539008.1:c.103+86_103+88dup	XP_011537310.1:n.103+86_103+88dup
NM_000020.3:c.61+86_61+88dup MANE Select	NP_000011.2:n.61+86_61+88dup
NM_001077401.2:c.61+86_61+88dup	NP_001070869.1:n.61+86_61+88dup