Canonical Allele Identifier: CA2642996097

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6467909-ACCCCTGGTGGGGGCTCAGGCTGGACCCTGGGAGAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6467914_6467949del , CM000663.2:g.6467914_6467949del	GRCh38
NC_000001.10:g.6527974_6528009del , CM000663.1:g.6527974_6528009del	GRCh37
NC_000001.9:g.6450561_6450596del	NCBI36
NG_007978.1:g.57065_57100del , LRG_262:g.57065_57100del
NG_029910.1:g.3251_3286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.2891_2926del	ENSP00000344570.5:p.Ala964_Gly975del
ENST00000377728.8:c.2891_2926del MANE Select	ENSP00000366957.3:p.Ala964_Gly975del
ENST00000377740.5:c.2891_2926del	ENSP00000366969.4:p.Ala964_Gly975del
ENST00000377748.6:c.3065_3100del	ENSP00000366977.2:p.Ala1022_Gly1033del
ENST00000400913.6:c.2891_2926del	ENSP00000383704.1:p.Ala964_Gly975del
ENST00000400915.8:c.3002_3037del	ENSP00000383706.4:p.Ala1001_Gly1012del
ENST00000489097.6:n.3367_3402del
ENST00000535355.6:c.3098_3133del	ENSP00000441445.1:p.Ala1033_Gly1044del
ENST00000537245.6:c.3002_3037del	ENSP00000439625.2:p.Ala1001_Gly1012del
ENST00000673471.2:c.3188_3223del	ENSP00000500749.1:p.Ala1063_Gly1074del
ENST00000674790.1:c.*3103_*3138del	ENSP00000502815.1:n.*3103_*3138del
ENST00000675123.1:c.2250-52_2250-17del	ENSP00000502132.1:n.2250-52_2250-17del
ENST00000675548.1:c.*2719_*2754del	ENSP00000502684.1:n.*2719_*2754del
ENST00000675694.1:c.2891_2926del	ENSP00000501925.1:p.Ala964_Gly975del
ENST00000675976.1:c.764_799del	ENSP00000501611.1:p.Ala255_Gly266del
ENST00000340850.9:c.2891_2926del	ENSP00000344570.5:p.Ala964_Gly975del
ENST00000377725.5:c.2738-47_2738-12del	ENSP00000366954.1:n.2738-47_2738-12del
ENST00000377728.7:c.2891_2926del	ENSP00000366957.3:p.Ala964_Gly975del
ENST00000377732.5:c.3002_3037del	ENSP00000366961.1:p.Ala1001_Gly1012del
ENST00000377740.4:c.2481-52_2481-17del	ENSP00000366969.3:n.2481-52_2481-17del
ENST00000377748.5:c.3122_3157del	ENSP00000366977.1:p.Ala1041_Gly1052del
ENST00000400913.5:c.2891_2926del	ENSP00000383704.1:p.Ala964_Gly975del
ENST00000400915.7:c.3059_3094del	ENSP00000383706.3:p.Ala1020_Gly1031del
ENST00000487949.4:n.2093_2128del
ENST00000489097.5:n.3367_3402del
ENST00000535355.5:c.3098_3133del	ENSP00000441445.1:p.Ala1033_Gly1044del
ENST00000537245.5:c.3128_3163del	ENSP00000439625.1:p.Ala1043_Gly1054del
NM_001042663.1:c.3059_3094del	NP_001036128.1:p.Ala1020_Gly1031del
NM_001042664.1:c.2891_2926del	NP_001036129.1:p.Ala964_Gly975del
NM_001042665.1:c.2891_2926del	NP_001036130.1:p.Ala964_Gly975del
NM_001265592.1:c.3128_3163del	NP_001252521.1:p.Ala1043_Gly1054del
NM_001265593.1:c.3098_3133del	NP_001252522.1:p.Ala1033_Gly1044del
NM_001265594.1:c.2738-47_2738-12del	NP_001252523.1:n.2738-47_2738-12del
NM_020631.4:c.2891_2926del	NP_065682.2:p.Ala964_Gly975del
NM_198681.3:c.3122_3157del	NP_941374.2:p.Ala1041_Gly1052del
NM_001042663.2:c.3059_3094del	NP_001036128.1:p.Ala1020_Gly1031del
NM_001265594.2:c.2738-47_2738-12del	NP_001252523.1:n.2738-47_2738-12del
NM_020631.5:c.2891_2926del	NP_065682.2:p.Ala964_Gly975del
NM_001042663.3:c.3002_3037del	NP_001036128.2:p.Ala1001_Gly1012del
NM_001265592.2:c.3002_3037del	NP_001252521.2:p.Ala1001_Gly1012del
NM_020631.6:c.2891_2926del MANE Select	NP_065682.2:p.Ala964_Gly975del
NM_198681.4:c.2891_2926del	NP_941374.3:p.Ala964_Gly975del