Canonical Allele Identifier: CA1335611027
Gene: INPP5D HGNC NCBI
PDE12 HGNC NCBI

Linked Data

dbSNP Id: rs1694158342

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233159844_233159850dup , CM000664.2:g.233159844_233159850dup GRCh38
NC_000002.11:g.234068490_234068496dup , CM000664.1:g.234068490_234068496dup GRCh37
NC_000002.10:g.233732540_233732546dup NCBI36
NG_033988.1:g.104878_104884dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000445964.6:c.1137+1425_1137+1431dup (INPP5D) MANE Select ENSP00000405338.2:n.1137+1425_1137+1431dup
ENST00000359570.9:c.1134+1425_1134+1431dup (INPP5D) ENSP00000352575.7:n.1134+1425_1134+1431dup
ENST00000445964.5:c.1137+1425_1137+1431dup (INPP5D) ENSP00000405338.2:n.1137+1425_1137+1431dup
NM_001017915.2:c.1137+1425_1137+1431dup (PDE12) NP_001017915.1:n.1137+1425_1137+1431dup
NM_005541.4:c.1134+1425_1134+1431dup (PDE12) NP_005532.2:n.1134+1425_1134+1431dup
XM_011511128.1:c.1137+1425_1137+1431dup (PDE12) XP_011509430.1:n.1137+1425_1137+1431dup
XM_011511129.1:c.357+1425_357+1431dup (PDE12) XP_011509431.1:n.357+1425_357+1431dup
XM_017004004.1:c.-401+1425_-401+1431dup (PDE12) XP_016859493.1:n.-401+1425_-401+1431dup
NM_001017915.3:c.1137+1425_1137+1431dup (PDE12) MANE Select NP_001017915.1:n.1137+1425_1137+1431dup
NM_005541.5:c.1134+1425_1134+1431dup (PDE12) NP_005532.2:n.1134+1425_1134+1431dup