Canonical Allele Identifier: CA916081666

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 838856
• ClinVar RCV Id: RCV001040491
• dbSNP Id: rs1592221830
• gnomAD v4: 12-51913269-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913274del , CM000674.2:g.51913274del	GRCh38
NC_000012.11:g.52307058del , CM000674.1:g.52307058del	GRCh37
NC_000012.10:g.50593325del	NCBI36
NG_009549.1:g.10857del , LRG_543:g.10857del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.279del	ENSP00000446724.2:p.Arg94AlafsTer?
ENST00000551576.6:c.237del	ENSP00000455848.2:p.Arg80AlafsTer?
ENST00000552678.2:c.237del	ENSP00000457394.2:p.Arg80AlafsTer?
ENST00000388922.9:c.237del MANE Select	ENSP00000373574.4:p.Arg80AlafsTer?
ENST00000388922.8:c.237del	ENSP00000373574.4:p.Arg80AlafsTer?
ENST00000419526.6:c.103+739del	ENSP00000392492.2:n.103+739del
ENST00000547400.5:c.279del	ENSP00000446724.1:p.Arg94AlafsTer?
ENST00000550683.5:c.279del	ENSP00000447884.1:p.Arg94AlafsTer?
ENST00000551576.5:c.237del	ENSP00000455848.1:p.Arg80AlafsTer?
NM_000020.2:c.237del , LRG_543t1:c.237del	NP_000011.2:p.Arg80AlafsTer?
NM_001077401.1:c.237del	NP_001070869.1:p.Arg80AlafsTer?
XM_005269235.2:c.237del	XP_005269292.1:p.Arg80AlafsTer?
XM_011539008.1:c.279del	XP_011537310.1:p.Arg94AlafsTer?
NM_000020.3:c.237del MANE Select	NP_000011.2:p.Arg80AlafsTer?
NM_001077401.2:c.237del	NP_001070869.1:p.Arg80AlafsTer?