Canonical Allele Identifier: CA916081670

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 838622
• ClinVar RCV Id: RCV001040207
• dbSNP Id: rs1940830552
• gnomAD v4: 12-51916041-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51916042del , CM000674.2:g.51916042del	GRCh38
NC_000012.11:g.52309826del , CM000674.1:g.52309826del	GRCh37
NC_000012.10:g.50596093del	NCBI36
NG_009549.1:g.13625del , LRG_543:g.13625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.785del	ENSP00000446724.2:p.Ala262ValfsTer2
ENST00000551576.6:c.1055del	ENSP00000455848.2:p.Ala352ValfsTer2
ENST00000552678.2:c.1055del	ENSP00000457394.2:p.Ala352ValfsTer2
ENST00000388922.9:c.1055del MANE Select	ENSP00000373574.4:p.Ala352ValfsTer2
ENST00000388922.8:c.1055del	ENSP00000373574.4:p.Ala352ValfsTer2
ENST00000419526.6:c.533del	ENSP00000392492.2:p.Ala178ValfsTer2
ENST00000547632.1:n.330del
ENST00000550683.5:c.1097del	ENSP00000447884.1:p.Ala366ValfsTer2
ENST00000552678.1:c.60del
NM_000020.2:c.1055del , LRG_543t1:c.1055del	NP_000011.2:p.Ala352ValfsTer2
NM_001077401.1:c.1055del	NP_001070869.1:p.Ala352ValfsTer2
XM_005269235.2:c.1055del	XP_005269292.1:p.Ala352ValfsTer2
XM_011539008.1:c.785del	XP_011537310.1:p.Ala262ValfsTer2
XM_024449279.1:c.266del	XP_024305047.1:p.Ala89ValfsTer2
NM_000020.3:c.1055del MANE Select	NP_000011.2:p.Ala352ValfsTer2
NM_001077401.2:c.1055del	NP_001070869.1:p.Ala352ValfsTer2