Canonical Allele Identifier: CA16041303
Gene: ASS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.130494874del , CM000671.2:g.130494874del GRCh38
NC_000009.11:g.133370261del , CM000671.1:g.133370261del GRCh37
NC_000009.10:g.132360082del NCBI36
NG_011542.1:g.55168del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352480.10:c.978del MANE Select ENSP00000253004.6:p.Trp326CysfsTer?
ENST00000352480.9:c.978del ENSP00000253004.6:p.Trp326CysfsTer?
ENST00000372386.6:n.249del
ENST00000372393.7:c.978del ENSP00000361469.2:p.Trp326CysfsTer?
ENST00000372394.5:c.978del ENSP00000361471.1:p.Trp326CysfsTer?
NM_000050.4:c.978del NP_000041.2:p.Trp326CysfsTer?
NM_054012.3:c.978del NP_446464.1:p.Trp326CysfsTer?
XM_005272200.2:c.978del XP_005272257.1:p.Trp326CysfsTer?
XM_011518705.1:c.1092del XP_011517007.1:p.Trp364CysfsTer?
XR_930393.1:n.1060-2616del
XM_005272200.3:c.978del XP_005272257.1:p.Trp326CysfsTer?
XM_011518705.2:c.1092del XP_011517007.1:p.Trp364CysfsTer?
XM_017014729.1:c.1074del XP_016870218.1:p.Trp358CysfsTer?
XR_930393.2:n.1102-2616del
NM_054012.4:c.978del MANE Select NP_446464.1:p.Trp326CysfsTer?
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