Canonical Allele Identifier: CA1151516436
Gene: PLEKHG5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6467897_6467898del , CM000663.2:g.6467897_6467898del GRCh38
NC_000001.10:g.6527957_6527958del , CM000663.1:g.6527957_6527958del GRCh37
NC_000001.9:g.6450544_6450545del NCBI36
NG_007978.1:g.57114_57115del , LRG_262:g.57114_57115del
NG_029910.1:g.3300_3301del

Transcript Alleles

HGVS Amino-acid change
ENST00000340850.10:c.2940_2941del ENSP00000344570.5:p.His980GlnfsTer18
ENST00000377728.8:c.2940_2941del MANE Select ENSP00000366957.3:p.His980GlnfsTer18
ENST00000377740.5:c.2940_2941del ENSP00000366969.4:p.His980GlnfsTer18
ENST00000377748.6:c.3114_3115del ENSP00000366977.2:p.His1038GlnfsTer18
ENST00000400913.6:c.2940_2941del ENSP00000383704.1:p.His980GlnfsTer18
ENST00000400915.8:c.3051_3052del ENSP00000383706.4:p.His1017GlnfsTer18
ENST00000489097.6:n.3416_3417del
ENST00000535355.6:c.3147_3148del ENSP00000441445.1:p.His1049GlnfsTer18
ENST00000537245.6:c.3051_3052del ENSP00000439625.2:p.His1017GlnfsTer18
ENST00000673471.2:c.3237_3238del ENSP00000500749.1:p.His1079GlnfsTer18
ENST00000674790.1:c.*3152_*3153del ENSP00000502815.1:n.*3152_*3153del
ENST00000675123.1:c.2250-3_2250-2del ENSP00000502132.1:n.2250-3_2250-2del
ENST00000675548.1:c.*2768_*2769del ENSP00000502684.1:n.*2768_*2769del
ENST00000675694.1:c.2940_2941del ENSP00000501925.1:p.His980GlnfsTer18
ENST00000675976.1:c.813_814del ENSP00000501611.1:p.His271GlnfsTer18
ENST00000340850.9:c.2940_2941del ENSP00000344570.5:p.His980GlnfsTer18
ENST00000377725.5:c.2740_2741del ENSP00000366954.1:p.Gln914GlyfsTer3
ENST00000377728.7:c.2940_2941del ENSP00000366957.3:p.His980GlnfsTer18
ENST00000377732.5:c.3051_3052del ENSP00000366961.1:p.His1017GlnfsTer18
ENST00000377740.4:c.2481-3_2481-2del ENSP00000366969.3:n.2481-3_2481-2del
ENST00000377748.5:c.3171_3172del ENSP00000366977.1:p.His1057GlnfsTer18
ENST00000400913.5:c.2940_2941del ENSP00000383704.1:p.His980GlnfsTer18
ENST00000400915.7:c.3108_3109del ENSP00000383706.3:p.His1036GlnfsTer18
ENST00000487949.4:n.2142_2143del
ENST00000489097.5:n.3416_3417del
ENST00000535355.5:c.3147_3148del ENSP00000441445.1:p.His1049GlnfsTer18
ENST00000537245.5:c.3177_3178del ENSP00000439625.1:p.His1059GlnfsTer18
NM_001042663.1:c.3108_3109del NP_001036128.1:p.His1036GlnfsTer18
NM_001042664.1:c.2940_2941del NP_001036129.1:p.His980GlnfsTer18
NM_001042665.1:c.2940_2941del NP_001036130.1:p.His980GlnfsTer18
NM_001265592.1:c.3177_3178del NP_001252521.1:p.His1059GlnfsTer18
NM_001265593.1:c.3147_3148del NP_001252522.1:p.His1049GlnfsTer18
NM_001265594.1:c.2740_2741del NP_001252523.1:p.Gln914GlyfsTer3
NM_020631.4:c.2940_2941del NP_065682.2:p.His980GlnfsTer18
NM_198681.3:c.3171_3172del NP_941374.2:p.His1057GlnfsTer18
NM_001042663.2:c.3108_3109del NP_001036128.1:p.His1036GlnfsTer18
NM_001265594.2:c.2740_2741del NP_001252523.1:p.Gln914GlyfsTer3
NM_020631.5:c.2940_2941del NP_065682.2:p.His980GlnfsTer18
NM_001042663.3:c.3051_3052del NP_001036128.2:p.His1017GlnfsTer18
NM_001265592.2:c.3051_3052del NP_001252521.2:p.His1017GlnfsTer18
NM_020631.6:c.2940_2941del MANE Select NP_065682.2:p.His980GlnfsTer18
NM_198681.4:c.2940_2941del NP_941374.3:p.His980GlnfsTer18