Canonical Allele Identifier: CA2786261666
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136428642_136428646del , CM000671.2:g.136428642_136428646del GRCh38
NC_000009.11:g.139323094_139323098del , CM000671.1:g.139323094_139323098del GRCh37
NC_000009.10:g.138442915_138442919del NCBI36
NG_016126.1:g.16161_16165del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.*1031_*1035del MANE Select ENSP00000360777.3:n.*1031_*1035del
ENST00000676019.1:c.*1031_*1035del ENSP00000501984.1:n.*1031_*1035del
ENST00000371712.3:c.*1031_*1035del ENSP00000360777.3:n.*1031_*1035del
NM_019892.4:c.*1031_*1035del NP_063945.2:n.*1031_*1035del
XM_005266094.2:c.*1031_*1035del XP_005266151.1:n.*1031_*1035del
NM_001318502.1:c.*1031_*1035del NP_001305431.1:n.*1031_*1035del
NM_019892.5:c.*1031_*1035del NP_063945.2:n.*1031_*1035del
XM_017014926.1:c.*1110_*1114del XP_016870415.1:n.*1110_*1114del
NM_019892.6:c.*1031_*1035del MANE Select NP_063945.2:n.*1031_*1035del
NM_001318502.2:c.*1031_*1035del NP_001305431.1:n.*1031_*1035del