Canonical Allele Identifier: CA274314
Community Standard Title: NM_054012.4(ASS1):c.450_451del (p.Phe150LeufsTer9)
Gene: ASS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130466754_130466755del , CM000671.2:g.130466754_130466755del GRCh38
NC_000009.11:g.133342141_133342142del , CM000671.1:g.133342141_133342142del GRCh37
NC_000009.10:g.132331962_132331963del NCBI36
NG_011542.1:g.27048_27049del

Transcript Alleles

HGVS Amino-acid Change
NM_054012.4:c.450_451del MANE Select NP_446464.1:p.Phe150LeufsTer9
ENST00000352480.10:c.450_451del MANE Select ENSP00000253004.6:p.Phe150LeufsTer9
NM_000050.4:c.450_451del NP_000041.2:p.Phe150LeufsTer9
NM_054012.3:c.450_451del NP_446464.1:p.Phe150LeufsTer9
ENST00000352480.9:c.450_451del ENSP00000253004.6:p.Phe150LeufsTer9
ENST00000372393.7:c.450_451del ENSP00000361469.2:p.Phe150LeufsTer9
ENST00000372394.5:c.450_451del ENSP00000361471.1:p.Phe150LeufsTer9
ENST00000422569.5:c.450_451del ENSP00000394212.1:p.Phe150LeufsTer9
ENST00000443588.1:c.393_394del ENSP00000397785.1:p.Phe131LeufsTer9
ENST00000467695.5:n.159_160del
ENST00000493984.6:n.281_282del
XM_005272200.2:c.450_451del XP_005272257.1:p.Phe150LeufsTer9
XM_005272200.3:c.450_451del XP_005272257.1:p.Phe150LeufsTer9
XM_011518705.1:c.564_565del XP_011517007.1:p.Phe188LeufsTer9
XM_011518705.2:c.564_565del XP_011517007.1:p.Phe188LeufsTer9
XM_017014729.1:c.546_547del XP_016870218.1:p.Phe182LeufsTer9
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