Canonical Allele Identifier: CA2786261687
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136428667_136428689del , CM000671.2:g.136428667_136428689del GRCh38
NC_000009.11:g.139323119_139323141del , CM000671.1:g.139323119_139323141del GRCh37
NC_000009.10:g.138442940_138442962del NCBI36
NG_016126.1:g.16118_16140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.*988_*1010del MANE Select ENSP00000360777.3:n.*988_*1010del
ENST00000676019.1:c.*988_*1010del ENSP00000501984.1:n.*988_*1010del
ENST00000371712.3:c.*988_*1010del ENSP00000360777.3:n.*988_*1010del
NM_019892.4:c.*988_*1010del NP_063945.2:n.*988_*1010del
XM_005266094.2:c.*988_*1010del XP_005266151.1:n.*988_*1010del
NM_001318502.1:c.*988_*1010del NP_001305431.1:n.*988_*1010del
NM_019892.5:c.*988_*1010del NP_063945.2:n.*988_*1010del
XM_017014926.1:c.*1067_*1089del XP_016870415.1:n.*1067_*1089del
NM_019892.6:c.*988_*1010del MANE Select NP_063945.2:n.*988_*1010del
NM_001318502.2:c.*988_*1010del NP_001305431.1:n.*988_*1010del