Canonical Allele Identifier: CA998178805
Gene: PLEKHG5 HGNC NCBI

Linked Data

dbSNP Id: rs1644690103
gnomAD v3: 1-6474249-C-CA
gnomAD v4: 1-6474249-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6474250dup , CM000663.2:g.6474250dup GRCh38
NC_000001.10:g.6534310dup , CM000663.1:g.6534310dup GRCh37
NC_000001.9:g.6456897dup NCBI36
NG_007978.1:g.50760dup , LRG_262:g.50760dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000340850.10:c.440-86dup ENSP00000344570.5:n.440-86dup
ENST00000377728.8:c.440-86dup MANE Select ENSP00000366957.3:n.440-86dup
ENST00000377740.5:c.440-86dup ENSP00000366969.4:n.440-86dup
ENST00000377748.6:c.614-86dup ENSP00000366977.2:n.614-86dup
ENST00000400913.6:c.440-86dup ENSP00000383704.1:n.440-86dup
ENST00000400915.8:c.551-86dup ENSP00000383706.4:n.551-86dup
ENST00000489097.6:n.916-86dup
ENST00000535355.6:c.647-86dup ENSP00000441445.1:n.647-86dup
ENST00000537245.6:c.551-86dup ENSP00000439625.2:n.551-86dup
ENST00000673471.2:c.737-86dup ENSP00000500749.1:n.737-86dup
ENST00000674790.1:c.*652-86dup ENSP00000502815.1:n.*652-86dup
ENST00000675123.1:c.440-86dup ENSP00000502132.1:n.440-86dup
ENST00000675548.1:c.*268-86dup ENSP00000502684.1:n.*268-86dup
ENST00000675694.1:c.440-86dup ENSP00000501925.1:n.440-86dup
ENST00000340850.9:c.440-86dup ENSP00000344570.5:n.440-86dup
ENST00000377725.5:c.440-86dup ENSP00000366954.1:n.440-86dup
ENST00000377728.7:c.440-86dup ENSP00000366957.3:n.440-86dup
ENST00000377732.5:c.551-86dup ENSP00000366961.1:n.551-86dup
ENST00000377740.4:c.671-86dup ENSP00000366969.3:n.671-86dup
ENST00000377748.5:c.671-86dup ENSP00000366977.1:n.671-86dup
ENST00000400913.5:c.440-86dup ENSP00000383704.1:n.440-86dup
ENST00000400915.7:c.608-86dup ENSP00000383706.3:n.608-86dup
ENST00000489097.5:n.916-86dup
ENST00000535355.5:c.647-86dup ENSP00000441445.1:n.647-86dup
ENST00000537245.5:c.677-86dup ENSP00000439625.1:n.677-86dup
NM_001042663.1:c.608-86dup NP_001036128.1:n.608-86dup
NM_001042664.1:c.440-86dup NP_001036129.1:n.440-86dup
NM_001042665.1:c.440-86dup NP_001036130.1:n.440-86dup
NM_001265592.1:c.677-86dup NP_001252521.1:n.677-86dup
NM_001265593.1:c.647-86dup NP_001252522.1:n.647-86dup
NM_001265594.1:c.440-86dup NP_001252523.1:n.440-86dup
NM_020631.4:c.440-86dup NP_065682.2:n.440-86dup
NM_198681.3:c.671-86dup NP_941374.2:n.671-86dup
NM_001042663.2:c.608-86dup NP_001036128.1:n.608-86dup
NM_001265594.2:c.440-86dup NP_001252523.1:n.440-86dup
NM_020631.5:c.440-86dup NP_065682.2:n.440-86dup
NM_001042663.3:c.551-86dup NP_001036128.2:n.551-86dup
NM_001265592.2:c.551-86dup NP_001252521.2:n.551-86dup
NM_020631.6:c.440-86dup MANE Select NP_065682.2:n.440-86dup
NM_198681.4:c.440-86dup NP_941374.3:n.440-86dup