Canonical Allele Identifier: CA5283579

Gene: ASS1

Linked Data

• ClinVar Variation Id: 558680
• ClinVar RCV Id: RCV000674984 ; RCV002544676
• dbSNP Id: rs775791516
• ExAC: 9:133364829 AT / A
• gnomAD v2: 9-133364829-AT-A
• gnomAD v4: 9-130489442-AT-A
• MyVariant Identifiers: chr9:g.133364830del (hg19) ; chr9:g.130489445del (hg38) ; chr9:g.130489443del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489445del , CM000671.2:g.130489445del	GRCh38
NC_000009.11:g.133364832del , CM000671.1:g.133364832del	GRCh37
NC_000009.10:g.132354653del	NCBI36
NG_011542.1:g.49739del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.951del MANE Select	ENSP00000253004.6:p.Phe317LeufsTer?
ENST00000352480.9:c.951del	ENSP00000253004.6:p.Phe317LeufsTer?
ENST00000372386.6:n.222del
ENST00000372393.7:c.951del	ENSP00000361469.2:p.Phe317LeufsTer?
ENST00000372394.5:c.951del	ENSP00000361471.1:p.Phe317LeufsTer?
NM_000050.4:c.951del	NP_000041.2:p.Phe317LeufsTer?
NM_054012.3:c.951del	NP_446464.1:p.Phe317LeufsTer?
XM_005272200.2:c.951del	XP_005272257.1:p.Phe317LeufsTer?
XM_011518705.1:c.1065del	XP_011517007.1:p.Phe355LeufsTer?
XM_005272200.3:c.951del	XP_005272257.1:p.Phe317LeufsTer?
XM_011518705.2:c.1065del	XP_011517007.1:p.Phe355LeufsTer?
XM_017014729.1:c.1047del	XP_016870218.1:p.Phe349LeufsTer?
NM_054012.4:c.951del MANE Select	NP_446464.1:p.Phe317LeufsTer?