Canonical Allele Identifier: CA861054693

Gene: INPP5E

Linked Data

• dbSNP Id: rs1446691828
• gnomAD v3: 9-136428777-CGAA-C
• gnomAD v4: 9-136428777-CGAA-C
• MyVariant Identifiers: chr9:g.139323230_139323232del (hg19) ; chr9:g.136428778_136428780del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136428781_136428783del , CM000671.2:g.136428781_136428783del	GRCh38
NC_000009.11:g.139323233_139323235del , CM000671.1:g.139323233_139323235del	GRCh37
NC_000009.10:g.138443054_138443056del	NCBI36
NG_016126.1:g.16025_16027del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371712.4:c.*895_*897del MANE Select	ENSP00000360777.3:n.*895_*897del
ENST00000676019.1:c.*895_*897del	ENSP00000501984.1:n.*895_*897del
ENST00000371712.3:c.*895_*897del	ENSP00000360777.3:n.*895_*897del
NM_019892.4:c.*895_*897del	NP_063945.2:n.*895_*897del
XM_005266094.2:c.*895_*897del	XP_005266151.1:n.*895_*897del
NM_001318502.1:c.*895_*897del	NP_001305431.1:n.*895_*897del
NM_019892.5:c.*895_*897del	NP_063945.2:n.*895_*897del
XM_017014926.1:c.*974_*976del	XP_016870415.1:n.*974_*976del
NM_019892.6:c.*895_*897del MANE Select	NP_063945.2:n.*895_*897del
NM_001318502.2:c.*895_*897del	NP_001305431.1:n.*895_*897del