Canonical Allele Identifier: CA16609765

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 402339
• ClinVar RCV Id: RCV000454432
• dbSNP Id: rs1060499838
• gnomAD v2: 12-52314642-AG-A
• gnomAD v4: 12-51920858-AG-A
• MyVariant Identifiers: chr12:g.52314643del (hg19) ; chr12:g.51920859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51920859del , CM000674.2:g.51920859del	GRCh38
NC_000012.11:g.52314643del , CM000674.1:g.52314643del	GRCh37
NC_000012.10:g.50600910del	NCBI36
NG_009549.1:g.18442del , LRG_543:g.18442del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.1208del	ENSP00000446724.2:p.Ser403ThrfsTer9
ENST00000551576.6:c.1478del	ENSP00000455848.2:p.Ser493ThrfsTer9
ENST00000388922.9:c.1478del MANE Select	ENSP00000373574.4:p.Ser493ThrfsTer9
ENST00000388922.8:c.1478del	ENSP00000373574.4:p.Ser493ThrfsTer9
ENST00000419526.6:c.956del	ENSP00000392492.2:p.Ser319ThrfsTer9
ENST00000550683.5:c.1520del	ENSP00000447884.1:p.Ser507ThrfsTer9
NM_000020.2:c.1478del , LRG_543t1:c.1478del	NP_000011.2:p.Ser493ThrfsTer9
NM_001077401.1:c.1478del	NP_001070869.1:p.Ser493ThrfsTer9
XM_005269235.2:c.1478del	XP_005269292.1:p.Ser493ThrfsTer9
XM_011539008.1:c.1208del	XP_011537310.1:p.Ser403ThrfsTer9
XM_024449279.1:c.689del	XP_024305047.1:p.Ser230ThrfsTer9
NM_000020.3:c.1478del MANE Select	NP_000011.2:p.Ser493ThrfsTer9
NM_001077401.2:c.1478del	NP_001070869.1:p.Ser493ThrfsTer9