Canonical Allele Identifier: CA2573148774

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1407067
• ClinVar RCV Id: RCV001918246 ; RCV002407052
• dbSNP Id: rs2139065161

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913230del , CM000674.2:g.51913230del	GRCh38
NC_000012.11:g.52307014del , CM000674.1:g.52307014del	GRCh37
NC_000012.10:g.50593281del	NCBI36
NG_009549.1:g.10813del , LRG_543:g.10813del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.235del	ENSP00000446724.2:p.Glu79AsnfsTer?
ENST00000551576.6:c.193del	ENSP00000455848.2:p.Glu65AsnfsTer?
ENST00000552678.2:c.193del	ENSP00000457394.2:p.Glu65AsnfsTer?
ENST00000388922.9:c.193del MANE Select	ENSP00000373574.4:p.Glu65AsnfsTer?
ENST00000388922.8:c.193del	ENSP00000373574.4:p.Glu65AsnfsTer?
ENST00000419526.6:c.103+695del	ENSP00000392492.2:n.103+695del
ENST00000547400.5:c.235del	ENSP00000446724.1:p.Glu79AsnfsTer?
ENST00000550683.5:c.235del	ENSP00000447884.1:p.Glu79AsnfsTer?
ENST00000551576.5:c.193del	ENSP00000455848.1:p.Glu65AsnfsTer?
NM_000020.2:c.193del , LRG_543t1:c.193del	NP_000011.2:p.Glu65AsnfsTer?
NM_001077401.1:c.193del	NP_001070869.1:p.Glu65AsnfsTer?
XM_005269235.2:c.193del	XP_005269292.1:p.Glu65AsnfsTer?
XM_011539008.1:c.235del	XP_011537310.1:p.Glu79AsnfsTer?
NM_000020.3:c.193del MANE Select	NP_000011.2:p.Glu65AsnfsTer?
NM_001077401.2:c.193del	NP_001070869.1:p.Glu65AsnfsTer?