Allele Registry

Canonical Allele Identifier: CA10605093

Gene: ASS1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.130494960del

GRCh37 chr9:g.133370347del

Linked Data - NCBI & NCI

ClinVar Allele:

269615

ClinVar RCV:

RCV000306977

ClinVar Variation:

285378

dbSNP:

886043088

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130494960del , CM000671.2:g.130494960del	GRCh38
NC_000009.11:g.133370347del , CM000671.1:g.133370347del	GRCh37
NC_000009.10:g.132360168del	NCBI36
NG_011542.1:g.55254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352480.10:c.1064del MANE Select	ENSP00000253004.6:p.Lys355ArgfsTer21
ENST00000352480.9:c.1064del	ENSP00000253004.6:p.Lys355ArgfsTer21
ENST00000372386.6:n.335del
ENST00000372393.7:c.1064del	ENSP00000361469.2:p.Lys355ArgfsTer21
ENST00000372394.5:c.1064del	ENSP00000361471.1:p.Lys355ArgfsTer21
NM_000050.4:c.1064del	NP_000041.2:p.Lys355ArgfsTer21
NM_054012.3:c.1064del	NP_446464.1:p.Lys355ArgfsTer21
XM_005272200.2:c.1064del	XP_005272257.1:p.Lys355ArgfsTer21
XM_011518705.1:c.1178del	XP_011517007.1:p.Lys393ArgfsTer21
XR_930393.1:n.1060-2702del
XM_005272200.3:c.1064del	XP_005272257.1:p.Lys355ArgfsTer21
XM_011518705.2:c.1178del	XP_011517007.1:p.Lys393ArgfsTer21
XM_017014729.1:c.1160del	XP_016870218.1:p.Lys387ArgfsTer21
XR_930393.2:n.1102-2702del
NM_054012.4:c.1064del MANE Select	NP_446464.1:p.Lys355ArgfsTer21

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