Canonical Allele Identifier: CA375561522
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136431001C>T , CM000671.2:g.136431001C>T GRCh38
NC_000009.11:g.139325453C>T , CM000671.1:g.139325453C>T GRCh37
NC_000009.10:g.138445274C>T NCBI36
NG_016126.1:g.13804G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371712.4:c.1665+1G>A MANE Select ENSP00000360777.3:n.1665+1G>A
ENST00000674693.1:n.182+1G>A
ENST00000676019.1:c.1563+1G>A ENSP00000501984.1:n.1563+1G>A
ENST00000371712.3:c.1665+1G>A ENSP00000360777.3:n.1665+1G>A
NM_019892.4:c.1665+1G>A NP_063945.2:n.1665+1G>A
XM_005266094.2:c.1662+1G>A XP_005266151.1:n.1662+1G>A
NM_001318502.1:c.1662+1G>A NP_001305431.1:n.1662+1G>A
NM_019892.5:c.1665+1G>A NP_063945.2:n.1665+1G>A
XM_017014926.1:c.1665+1G>A XP_016870415.1:n.1665+1G>A
XR_929828.2:n.2270+1G>A
NM_019892.6:c.1665+1G>A MANE Select NP_063945.2:n.1665+1G>A
NM_001318502.2:c.1662+1G>A NP_001305431.1:n.1662+1G>A