Canonical Allele Identifier: CA916099471

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1557737078
• gnomAD v4: 1-6469176-T-TCCTCCTCTTCCTCCTCCTGCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6469176_6469177insCCTCCTCTTCCTCCTCCTGCTCA , CM000663.2:g.6469176_6469177insCCTCCTCTTCCTCCTCCTGCTCA	GRCh38
NC_000001.10:g.6529236_6529237insCCTCCTCTTCCTCCTCCTGCTCA , CM000663.1:g.6529236_6529237insCCTCCTCTTCCTCCTCCTGCTCA	GRCh37
NC_000001.9:g.6451823_6451824insCCTCCTCTTCCTCCTCCTGCTCA	NCBI36
NG_007978.1:g.55833_55834insTGAGCAGGAGGAGGAAGAGGAGG , LRG_262:g.55833_55834insTGAGCAGGAGGAGGAAGAGGAGG
NG_029910.1:g.2019_2020insTGAGCAGGAGGAGGAAGAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000344570.5:p.Glu705AspfsTer?
ENST00000377728.8:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG MANE Select	ENSP00000366957.3:p.Glu705AspfsTer?
ENST00000377740.5:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366969.4:p.Glu705AspfsTer?
ENST00000377748.6:c.2288_2289insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366977.2:p.Glu763AspfsTer?
ENST00000400913.6:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000383704.1:p.Glu705AspfsTer?
ENST00000400915.8:c.2225_2226insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000383706.4:p.Glu742AspfsTer?
ENST00000489097.6:n.2590_2591insTGAGCAGGAGGAGGAAGAGGAGG
ENST00000535355.6:c.2321_2322insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000441445.1:p.Glu774AspfsTer?
ENST00000537245.6:c.2225_2226insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000439625.2:p.Glu742AspfsTer?
ENST00000673471.2:c.2411_2412insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000500749.1:p.Glu804AspfsTer?
ENST00000674790.1:c.*2326_*2327insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000502815.1:n.*2326_*2327insTGAGCAGGAGGAGGAAGAGGAGG
ENST00000675123.1:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000502132.1:p.Glu705AspfsTer?
ENST00000675139.1:n.185_186insTGAGCAGGAGGAGGAAGAGGAGG
ENST00000675548.1:c.*1942_*1943insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000502684.1:n.*1942_*1943insTGAGCAGGAGGAGGAAGAGGAGG
ENST00000675694.1:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000501925.1:p.Glu705AspfsTer?
ENST00000340850.9:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000344570.5:p.Glu705AspfsTer?
ENST00000377725.5:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366954.1:p.Glu705AspfsTer?
ENST00000377728.7:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366957.3:p.Glu705AspfsTer?
ENST00000377732.5:c.2225_2226insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366961.1:p.Glu742AspfsTer?
ENST00000377740.4:c.2345_2346insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366969.3:p.Glu782AspfsTer?
ENST00000377748.5:c.2345_2346insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000366977.1:p.Glu782AspfsTer?
ENST00000400913.5:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000383704.1:p.Glu705AspfsTer?
ENST00000400915.7:c.2282_2283insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000383706.3:p.Glu761AspfsTer?
ENST00000487949.4:n.1316_1317insTGAGCAGGAGGAGGAAGAGGAGG
ENST00000489097.5:n.2590_2591insTGAGCAGGAGGAGGAAGAGGAGG
ENST00000535355.5:c.2321_2322insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000441445.1:p.Glu774AspfsTer?
ENST00000537245.5:c.2351_2352insTGAGCAGGAGGAGGAAGAGGAGG	ENSP00000439625.1:p.Glu784AspfsTer?
NM_001042663.1:c.2282_2283insTGAGCAGGAGGAGGAAGAGGAGG	NP_001036128.1:p.Glu761AspfsTer?
NM_001042664.1:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_001036129.1:p.Glu705AspfsTer?
NM_001042665.1:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_001036130.1:p.Glu705AspfsTer?
NM_001265592.1:c.2351_2352insTGAGCAGGAGGAGGAAGAGGAGG	NP_001252521.1:p.Glu784AspfsTer?
NM_001265593.1:c.2321_2322insTGAGCAGGAGGAGGAAGAGGAGG	NP_001252522.1:p.Glu774AspfsTer?
NM_001265594.1:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_001252523.1:p.Glu705AspfsTer?
NM_020631.4:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_065682.2:p.Glu705AspfsTer?
NM_198681.3:c.2345_2346insTGAGCAGGAGGAGGAAGAGGAGG	NP_941374.2:p.Glu782AspfsTer?
NM_001042663.2:c.2282_2283insTGAGCAGGAGGAGGAAGAGGAGG	NP_001036128.1:p.Glu761AspfsTer?
NM_001265594.2:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_001252523.1:p.Glu705AspfsTer?
NM_020631.5:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_065682.2:p.Glu705AspfsTer?
NM_001042663.3:c.2225_2226insTGAGCAGGAGGAGGAAGAGGAGG	NP_001036128.2:p.Glu742AspfsTer?
NM_001265592.2:c.2225_2226insTGAGCAGGAGGAGGAAGAGGAGG	NP_001252521.2:p.Glu742AspfsTer?
NM_020631.6:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG MANE Select	NP_065682.2:p.Glu705AspfsTer?
NM_198681.4:c.2114_2115insTGAGCAGGAGGAGGAAGAGGAGG	NP_941374.3:p.Glu705AspfsTer?