Canonical Allele Identifier: CA2573148778

Gene: ACVRL1

Linked Data

• ClinVar Variation Id: 1456160
• ClinVar RCV Id: RCV001951005
• dbSNP Id: rs2139067828

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51913745_51913763del , CM000674.2:g.51913745_51913763del	GRCh38
NC_000012.11:g.52307529_52307547del , CM000674.1:g.52307529_52307547del	GRCh37
NC_000012.10:g.50593796_50593814del	NCBI36
NG_009549.1:g.11328_11346del , LRG_543:g.11328_11346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547400.6:c.355+395_355+413del	ENSP00000446724.2:n.355+395_355+413del
ENST00000551576.6:c.500_518del	ENSP00000455848.2:p.Ser167CysfsTer?
ENST00000552678.2:c.500_518del	ENSP00000457394.2:p.Ser167CysfsTer?
ENST00000388922.9:c.500_518del MANE Select	ENSP00000373574.4:p.Ser167CysfsTer?
ENST00000388922.8:c.500_518del	ENSP00000373574.4:p.Ser167CysfsTer?
ENST00000419526.6:c.104-694_104-676del	ENSP00000392492.2:n.104-694_104-676del
ENST00000547400.5:c.355+395_355+413del	ENSP00000446724.1:n.355+395_355+413del
ENST00000550683.5:c.542_560del	ENSP00000447884.1:p.Ser181CysfsTer?
NM_000020.2:c.500_518del , LRG_543t1:c.500_518del	NP_000011.2:p.Ser167CysfsTer?
NM_001077401.1:c.500_518del	NP_001070869.1:p.Ser167CysfsTer?
XM_005269235.2:c.500_518del	XP_005269292.1:p.Ser167CysfsTer?
XM_011539008.1:c.355+395_355+413del	XP_011537310.1:n.355+395_355+413del
XM_024449279.1:c.-190_-172del	XP_024305047.1:n.-190_-172del
NM_000020.3:c.500_518del MANE Select	NP_000011.2:p.Ser167CysfsTer?
NM_001077401.2:c.500_518del	NP_001070869.1:p.Ser167CysfsTer?