Canonical Allele Identifier: CA2499221744

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1074142
• ClinVar RCV Id: RCV001387356
• dbSNP Id: rs2139064649

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913168_51913169insCACA , CM000674.2:g.51913168_51913169insCACA	GRCh38
NC_000012.11:g.52306952_52306953insCACA , CM000674.1:g.52306952_52306953insCACA	GRCh37
NC_000012.10:g.50593219_50593220insCACA	NCBI36
NG_009549.1:g.10751_10752insCACA , LRG_543:g.10751_10752insCACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000547400.6:c.173_174insCACA	ENSP00000446724.2:p.Cys60TyrfsTer?
ENST00000551576.6:c.131_132insCACA	ENSP00000455848.2:p.Cys46TyrfsTer?
ENST00000552678.2:c.131_132insCACA	ENSP00000457394.2:p.Cys46TyrfsTer?
ENST00000388922.9:c.131_132insCACA MANE Select	ENSP00000373574.4:p.Cys46TyrfsTer?
ENST00000388922.8:c.131_132insCACA	ENSP00000373574.4:p.Cys46TyrfsTer?
ENST00000419526.6:c.103+633_103+634insCACA	ENSP00000392492.2:n.103+633_103+634insCACA
ENST00000547400.5:c.173_174insCACA	ENSP00000446724.1:p.Cys60TyrfsTer?
ENST00000550683.5:c.173_174insCACA	ENSP00000447884.1:p.Cys60TyrfsTer?
ENST00000551576.5:c.131_132insCACA	ENSP00000455848.1:p.Cys46TyrfsTer?
NM_000020.2:c.131_132insCACA , LRG_543t1:c.131_132insCACA	NP_000011.2:p.Cys46TyrfsTer?
NM_001077401.1:c.131_132insCACA	NP_001070869.1:p.Cys46TyrfsTer?
XM_005269235.2:c.131_132insCACA	XP_005269292.1:p.Cys46TyrfsTer?
XM_011539008.1:c.173_174insCACA	XP_011537310.1:p.Cys60TyrfsTer?
NM_000020.3:c.131_132insCACA MANE Select	NP_000011.2:p.Cys46TyrfsTer?
NM_001077401.2:c.131_132insCACA	NP_001070869.1:p.Cys46TyrfsTer?