Canonical Allele Identifier: CA2580086432

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1976253
• ClinVar RCV Id: RCV002760797

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913169delinsCACATTGCAAGGTGCAAGGGTGC , CM000674.2:g.51913169delinsCACATTGCAAGGTGCAAGGGTGC	GRCh38
NC_000012.11:g.52306953delinsCACATTGCAAGGTGCAAGGGTGC , CM000674.1:g.52306953delinsCACATTGCAAGGTGCAAGGGTGC	GRCh37
NC_000012.10:g.50593220delinsCACATTGCAAGGTGCAAGGGTGC	NCBI36
NG_009549.1:g.10752delinsCACATTGCAAGGTGCAAGGGTGC , LRG_543:g.10752delinsCACATTGCAAGGTGCAAGGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.174delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000446724.2:p.Cys60LeufsTer?
ENST00000551576.6:c.132delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000455848.2:p.Cys46LeufsTer?
ENST00000552678.2:c.132delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000457394.2:p.Cys46LeufsTer?
ENST00000388922.9:c.132delinsCACATTGCAAGGTGCAAGGGTGC MANE Select	ENSP00000373574.4:p.Cys46LeufsTer?
ENST00000388922.8:c.132delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000373574.4:p.Cys46LeufsTer?
ENST00000419526.6:c.103+634delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000392492.2:n.103+634delinsCACATTGCAAGGTGCAAGGGTGC
ENST00000547400.5:c.174delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000446724.1:p.Cys60LeufsTer?
ENST00000550683.5:c.174delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000447884.1:p.Cys60LeufsTer?
ENST00000551576.5:c.132delinsCACATTGCAAGGTGCAAGGGTGC	ENSP00000455848.1:p.Cys46LeufsTer?
NM_000020.2:c.132delinsCACATTGCAAGGTGCAAGGGTGC , LRG_543t1:c.132delinsCACATTGCAAGGTGCAAGGGTGC	NP_000011.2:p.Cys46LeufsTer?
NM_001077401.1:c.132delinsCACATTGCAAGGTGCAAGGGTGC	NP_001070869.1:p.Cys46LeufsTer?
XM_005269235.2:c.132delinsCACATTGCAAGGTGCAAGGGTGC	XP_005269292.1:p.Cys46LeufsTer?
XM_011539008.1:c.174delinsCACATTGCAAGGTGCAAGGGTGC	XP_011537310.1:p.Cys60LeufsTer?
NM_000020.3:c.132delinsCACATTGCAAGGTGCAAGGGTGC MANE Select	NP_000011.2:p.Cys46LeufsTer?
NM_001077401.2:c.132delinsCACATTGCAAGGTGCAAGGGTGC	NP_001070869.1:p.Cys46LeufsTer?