Canonical Allele Identifier: CA201636954

Gene: INPP5E

Linked Data

• dbSNP Id: rs898166261
• gnomAD v3: 9-136428667-ATAATT-A
• gnomAD v4: 9-136428667-ATAATT-A
• MyVariant Identifiers: chr9:g.139323120_139323124del (hg19) ; chr9:g.136428668_136428672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428671_136428675del , CM000671.2:g.136428671_136428675del	GRCh38
NC_000009.11:g.139323123_139323127del , CM000671.1:g.139323123_139323127del	GRCh37
NC_000009.10:g.138442944_138442948del	NCBI36
NG_016126.1:g.16133_16137del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.*1003_*1007del MANE Select	ENSP00000360777.3:n.*1003_*1007del
ENST00000676019.1:c.*1003_*1007del	ENSP00000501984.1:n.*1003_*1007del
ENST00000371712.3:c.*1003_*1007del	ENSP00000360777.3:n.*1003_*1007del
NM_019892.4:c.*1003_*1007del	NP_063945.2:n.*1003_*1007del
XM_005266094.2:c.*1003_*1007del	XP_005266151.1:n.*1003_*1007del
NM_001318502.1:c.*1003_*1007del	NP_001305431.1:n.*1003_*1007del
NM_019892.5:c.*1003_*1007del	NP_063945.2:n.*1003_*1007del
XM_017014926.1:c.*1082_*1086del	XP_016870415.1:n.*1082_*1086del
NM_019892.6:c.*1003_*1007del MANE Select	NP_063945.2:n.*1003_*1007del
NM_001318502.2:c.*1003_*1007del	NP_001305431.1:n.*1003_*1007del