Canonical Allele Identifier: PA201475
Gene: PLEKHG5 HGNC NCBI

Linked Data

ClinVar Variation Id: 194979
ClinVar Variation Id: 2501239
ClinVar RCV Id: RCV003226836

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065682.2:p.Glu723del
CA201473
NM_020631.6:c.2166_2168del
CA561243
NM_020631.6:c.2142_2144del
CA17234893
NM_020631.6:c.2160_2163delinsA
CA338118281
NM_020631.6:c.2167G>T
CA338118338
NM_020631.6:c.2164G>T
CA338118384
NM_020631.6:c.2161G>T
CA338118415
NM_020631.6:c.2158G>T
CA338118458
NM_020631.6:c.2155G>T
CA338118502
NM_020631.6:c.2152G>T
CA338118522
NM_020631.6:c.2149G>T
CA338118576
NM_020631.6:c.2146G>T
CA338118598
NM_020631.6:c.2143G>T
CA338118631
NM_020631.6:c.2140G>T
CA338118668
NM_020631.6:c.2137G>T
CA338118699
NM_020631.6:c.2134G>T
CA1151520207
NM_020631.6:c.2168_2170del
CA2642975260
NM_020631.6:c.2139_2141del