Canonical Allele Identifier: CA915947573

Gene: ASS1

Linked Data

• ClinVar Variation Id: 813404
• ClinVar RCV Id: RCV001004327
• dbSNP Id: rs1588475891

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130458488del , CM000671.2:g.130458488del	GRCh38
NC_000009.11:g.133333875del , CM000671.1:g.133333875del	GRCh37
NC_000009.10:g.132323696del	NCBI36
NG_011542.1:g.18782del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352480.10:c.262del MANE Select	ENSP00000253004.6:p.Leu88SerfsTer?
ENST00000352480.9:c.262del	ENSP00000253004.6:p.Leu88SerfsTer?
ENST00000372393.7:c.262del	ENSP00000361469.2:p.Leu88SerfsTer?
ENST00000372394.5:c.262del	ENSP00000361471.1:p.Leu88SerfsTer?
ENST00000422569.5:c.262del	ENSP00000394212.1:p.Leu88SerfsTer?
ENST00000443588.1:c.262del	ENSP00000397785.1:p.Leu88SerfsTer?
NM_000050.4:c.262del	NP_000041.2:p.Leu88SerfsTer?
NM_054012.3:c.262del	NP_446464.1:p.Leu88SerfsTer?
XM_005272200.2:c.262del	XP_005272257.1:p.Leu88SerfsTer?
XM_011518705.1:c.376del	XP_011517007.1:p.Leu126SerfsTer?
XM_005272200.3:c.262del	XP_005272257.1:p.Leu88SerfsTer?
XM_011518705.2:c.376del	XP_011517007.1:p.Leu126SerfsTer?
XM_017014729.1:c.358del	XP_016870218.1:p.Leu120SerfsTer?
NM_054012.4:c.262del MANE Select	NP_446464.1:p.Leu88SerfsTer?