Canonical Allele Identifier: CA2642979896
Gene: PLEKHG5 HGNC NCBI

Linked Data

gnomAD v4: 1-6474662-G-GCCCCCCCCCCCCCCCCCACCCCCCC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCC , CM000663.2:g.6474667_6474668insCCCCCCCCCCCCACCCCCCCCCCCC GRCh38
NC_000001.10:g.6534727_6534728insCCCCCCCCCCCCACCCCCCCCCCCC , CM000663.1:g.6534727_6534728insCCCCCCCCCCCCACCCCCCCCCCCC GRCh37
NC_000001.9:g.6457314_6457315insCCCCCCCCCCCCACCCCCCCCCCCC NCBI36
NG_007978.1:g.50347_50348insGGGGGGGTGGGGGGGGGGGGGGGGG , LRG_262:g.50347_50348insGGGGGGGTGGGGGGGGGGGGGGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000344570.5:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377728.8:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG MANE Select ENSP00000366957.3:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377740.5:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366969.4:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377748.6:c.477-76_477-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366977.2:n.477-76_477-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000400913.6:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000383704.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000400915.8:c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000383706.4:n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000489097.6:n.703_704insGGGGGGGTGGGGGGGGGGGGGGGGG
ENST00000535355.6:c.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000441445.1:n.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000537245.6:c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000439625.2:n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000673471.2:c.600-76_600-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000500749.1:n.600-76_600-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000674790.1:c.*515-76_*515-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000502815.1:n.*515-76_*515-75insGGGGGGGTGGGGGGGGGGGGGGG...
ENST00000675093.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000502687.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000675123.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000502132.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000675548.1:c.*131-76_*131-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000502684.1:n.*131-76_*131-75insGGGGGGGTGGGGGGGGGGGGGGG...
ENST00000675694.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000501925.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000676255.1:c.264+34_264+35insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000502459.1:n.264+34_264+35insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000676287.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000502810.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000340850.9:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000344570.5:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377725.5:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366954.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377728.7:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366957.3:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377732.5:c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366961.1:n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377740.4:c.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366969.3:n.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000377748.5:c.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000366977.1:n.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000400913.5:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000383704.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000400915.7:c.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000383706.3:n.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000489097.5:n.703_704insGGGGGGGTGGGGGGGGGGGGGGGGG
ENST00000535355.5:c.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000441445.1:n.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
ENST00000537245.5:c.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG ENSP00000439625.1:n.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG...
NM_001042663.1:c.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001036128.1:n.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001042664.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001036129.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001042665.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001036130.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001265592.1:c.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001252521.1:n.540-76_540-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001265593.1:c.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001252522.1:n.510-76_510-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001265594.1:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001252523.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_020631.4:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_065682.2:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_198681.3:c.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_941374.2:n.534-76_534-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001042663.2:c.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001036128.1:n.471-76_471-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001265594.2:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001252523.1:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_020631.5:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_065682.2:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001042663.3:c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001036128.2:n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_001265592.2:c.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_001252521.2:n.414-76_414-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_020631.6:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG MANE Select NP_065682.2:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
NM_198681.4:c.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG NP_941374.3:n.303-76_303-75insGGGGGGGTGGGGGGGGGGGGGGGGG
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