Canonical Allele Identifier: CA274014

Gene: ASS1

Linked Data

• ClinVar Variation Id: 188832
• ClinVar RCV Id: RCV000169181 ; RCV001376598 ; RCV002225489
• dbSNP Id: rs770362721
• ExAC: 9:133364772 CG / C
• gnomAD v2: 9-133364772-CG-C
• gnomAD v3: 9-130489385-CG-C
• gnomAD v4: 9-130489385-CG-C
• MyVariant Identifiers: chr9:g.133364773del (hg19) ; chr9:g.130489386del (hg38)
• PubMed: PMID:12815590 ; PMID:15863597 ; PMID:19006241 ; PMID:24508627 ; PMID:25433810

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130489386del , CM000671.2:g.130489386del	GRCh38
NC_000009.11:g.133364773del , CM000671.1:g.133364773del	GRCh37
NC_000009.10:g.132354594del	NCBI36
NG_011542.1:g.49680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.892del MANE Select	ENSP00000253004.6:p.Glu298ArgfsTer18
ENST00000352480.9:c.892del	ENSP00000253004.6:p.Glu298ArgfsTer18
ENST00000372386.6:n.163del
ENST00000372393.7:c.892del	ENSP00000361469.2:p.Glu298ArgfsTer18
ENST00000372394.5:c.892del	ENSP00000361471.1:p.Glu298ArgfsTer18
ENST00000470849.4:n.617del
ENST00000492400.5:n.401del
ENST00000493984.6:n.669del
NM_000050.4:c.892del	NP_000041.2:p.Glu298ArgfsTer18
NM_054012.3:c.892del	NP_446464.1:p.Glu298ArgfsTer18
XM_005272200.2:c.892del	XP_005272257.1:p.Glu298ArgfsTer18
XM_011518705.1:c.1006del	XP_011517007.1:p.Glu336ArgfsTer18
XM_005272200.3:c.892del	XP_005272257.1:p.Glu298ArgfsTer18
XM_011518705.2:c.1006del	XP_011517007.1:p.Glu336ArgfsTer18
XM_017014729.1:c.988del	XP_016870218.1:p.Glu330ArgfsTer18
NM_054012.4:c.892del MANE Select	NP_446464.1:p.Glu298ArgfsTer18