Canonical Allele Identifier: CA2499221743

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1072776
• ClinVar RCV Id: RCV001385584 ; RCV002456602
• dbSNP Id: rs2139064475

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913152_51913153del , CM000674.2:g.51913152_51913153del	GRCh38
NC_000012.11:g.52306936_52306937del , CM000674.1:g.52306936_52306937del	GRCh37
NC_000012.10:g.50593203_50593204del	NCBI36
NG_009549.1:g.10735_10736del , LRG_543:g.10735_10736del

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.157_158del	ENSP00000446724.2:p.Pro53ThrfsTer?
ENST00000551576.6:c.115_116del	ENSP00000455848.2:p.Pro39ThrfsTer?
ENST00000552678.2:c.115_116del	ENSP00000457394.2:p.Pro39ThrfsTer?
ENST00000388922.9:c.115_116del MANE Select	ENSP00000373574.4:p.Pro39ThrfsTer?
ENST00000388922.8:c.115_116del	ENSP00000373574.4:p.Pro39ThrfsTer?
ENST00000419526.6:c.103+617_103+618del	ENSP00000392492.2:n.103+617_103+618del
ENST00000547400.5:c.157_158del	ENSP00000446724.1:p.Pro53ThrfsTer?
ENST00000550683.5:c.157_158del	ENSP00000447884.1:p.Pro53ThrfsTer?
ENST00000551576.5:c.115_116del	ENSP00000455848.1:p.Pro39ThrfsTer?
NM_000020.2:c.115_116del , LRG_543t1:c.115_116del	NP_000011.2:p.Pro39ThrfsTer?
NM_001077401.1:c.115_116del	NP_001070869.1:p.Pro39ThrfsTer?
XM_005269235.2:c.115_116del	XP_005269292.1:p.Pro39ThrfsTer?
XM_011539008.1:c.157_158del	XP_011537310.1:p.Pro53ThrfsTer?
NM_000020.3:c.115_116del MANE Select	NP_000011.2:p.Pro39ThrfsTer?
NM_001077401.2:c.115_116del	NP_001070869.1:p.Pro39ThrfsTer?