Canonical Allele Identifier: CA591183751
Community Standard Title: NM_019892.6(INPP5E):c.1550-98del
Gene: INPP5E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136431215del , CM000671.2:g.136431215del GRCh38
NC_000009.11:g.139325667del , CM000671.1:g.139325667del GRCh37
NC_000009.10:g.138445488del NCBI36
NG_016126.1:g.13590del

Transcript Alleles

HGVS Amino-acid Change
NM_019892.6:c.1550-98del MANE Select NP_063945.2:n.1550-98del
ENST00000371712.4:c.1550-98del MANE Select ENSP00000360777.3:n.1550-98del
NM_001318502.1:c.1547-98del NP_001305431.1:n.1547-98del
NM_001318502.2:c.1547-98del NP_001305431.1:n.1547-98del
NM_019892.4:c.1550-98del NP_063945.2:n.1550-98del
NM_019892.5:c.1550-98del NP_063945.2:n.1550-98del
ENST00000371712.3:c.1550-98del ENSP00000360777.3:n.1550-98del
ENST00000676019.1:c.1448-98del ENSP00000501984.1:n.1448-98del
XM_005266094.2:c.1547-98del XP_005266151.1:n.1547-98del
XM_017014926.1:c.1550-98del XP_016870415.1:n.1550-98del
XR_929828.2:n.2155-98del