Canonical Allele Identifier: CA2618859522

Gene: ACVRL1

Linked Data

• gnomAD v4: 12-51916026-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916031del , CM000674.2:g.51916031del	GRCh38
NC_000012.11:g.52309815del , CM000674.1:g.52309815del	GRCh37
NC_000012.10:g.50596082del	NCBI36
NG_009549.1:g.13614del , LRG_543:g.13614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.779-5del	ENSP00000446724.2:n.779-5del
ENST00000551576.6:c.1049-5del	ENSP00000455848.2:n.1049-5del
ENST00000552678.2:c.1049-5del	ENSP00000457394.2:n.1049-5del
ENST00000388922.9:c.1049-5del MANE Select	ENSP00000373574.4:n.1049-5del
ENST00000388922.8:c.1049-5del	ENSP00000373574.4:n.1049-5del
ENST00000419526.6:c.527-5del	ENSP00000392492.2:n.527-5del
ENST00000547632.1:n.319del
ENST00000550683.5:c.1091-5del	ENSP00000447884.1:n.1091-5del
ENST00000552678.1:c.54-5del
NM_000020.2:c.1049-5del , LRG_543t1:c.1049-5del	NP_000011.2:n.1049-5del
NM_001077401.1:c.1049-5del	NP_001070869.1:n.1049-5del
XM_005269235.2:c.1049-5del	XP_005269292.1:n.1049-5del
XM_011539008.1:c.779-5del	XP_011537310.1:n.779-5del
XM_024449279.1:c.260-5del	XP_024305047.1:n.260-5del
NM_000020.3:c.1049-5del MANE Select	NP_000011.2:n.1049-5del
NM_001077401.2:c.1049-5del	NP_001070869.1:n.1049-5del