Canonical Allele Identifier: CA1884222139
Gene: INPP5E HGNC NCBI

Linked Data

dbSNP Id: rs1835628876

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136428676_136428677del , CM000671.2:g.136428676_136428677del GRCh38
NC_000009.11:g.139323128_139323129del , CM000671.1:g.139323128_139323129del GRCh37
NC_000009.10:g.138442949_138442950del NCBI36
NG_016126.1:g.16130_16131del

Transcript Alleles

HGVS Amino-acid change
ENST00000371712.4:c.*1000_*1001del MANE Select ENSP00000360777.3:n.*1000_*1001del
ENST00000676019.1:c.*1000_*1001del ENSP00000501984.1:n.*1000_*1001del
ENST00000371712.3:c.*1000_*1001del ENSP00000360777.3:n.*1000_*1001del
NM_019892.4:c.*1000_*1001del NP_063945.2:n.*1000_*1001del
XM_005266094.2:c.*1000_*1001del XP_005266151.1:n.*1000_*1001del
NM_001318502.1:c.*1000_*1001del NP_001305431.1:n.*1000_*1001del
NM_019892.5:c.*1000_*1001del NP_063945.2:n.*1000_*1001del
XM_017014926.1:c.*1079_*1080del XP_016870415.1:n.*1079_*1080del
NM_019892.6:c.*1000_*1001del MANE Select NP_063945.2:n.*1000_*1001del
NM_001318502.2:c.*1000_*1001del NP_001305431.1:n.*1000_*1001del