Canonical Allele Identifier: CA274014
Gene: ASS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188832
dbSNP Id: rs770362721

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