Canonical Allele Identifier: CA10605093
Community Standard Title: NM_054012.4(ASS1):c.1064del (p.Lys355ArgfsTer21)
Gene: ASS1 HGNC NCBI
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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
NM_054012.4:c.1064del MANE Select NP_446464.1:p.Lys355ArgfsTer21
ENST00000352480.10:c.1064del MANE Select ENSP00000253004.6:p.Lys355ArgfsTer21
NM_000050.4:c.1064del NP_000041.2:p.Lys355ArgfsTer21
NM_054012.3:c.1064del NP_446464.1: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
XM_005272200.2:c.1064del XP_005272257.1:p.Lys355ArgfsTer21
XM_005272200.3:c.1064del XP_005272257.1:p.Lys355ArgfsTer21
XM_011518705.1:c.1178del XP_011517007.1:p.Lys393ArgfsTer21
XM_011518705.2:c.1178del XP_011517007.1:p.Lys393ArgfsTer21
XM_017014729.1:c.1160del XP_016870218.1:p.Lys387ArgfsTer21
XR_930393.1:n.1060-2702del
XR_930393.2:n.1102-2702del
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