Canonical Allele Identifier: CA338125397

Gene: PLEKHG5

Linked Data

• MyVariant Identifiers: chr1:g.6470584_6470586del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470586_6470588del , CM000663.2:g.6470586_6470588del	GRCh38
NC_000001.10:g.6530646_6530648del , CM000663.1:g.6530646_6530648del	GRCh37
NC_000001.9:g.6453233_6453235del	NCBI36
NG_007978.1:g.54424_54426del , LRG_262:g.54424_54426del
NG_029910.1:g.610_612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1600_1602del	ENSP00000344570.5:p.Glu534del
ENST00000377728.8:c.1600_1602del MANE Select	ENSP00000366957.3:p.Glu534del
ENST00000377740.5:c.1600_1602del	ENSP00000366969.4:p.Glu534del
ENST00000377748.6:c.1774_1776del	ENSP00000366977.2:p.Glu592del
ENST00000400913.6:c.1600_1602del	ENSP00000383704.1:p.Glu534del
ENST00000400915.8:c.1711_1713del	ENSP00000383706.4:p.Glu571del
ENST00000489097.6:n.2076_2078del
ENST00000535355.6:c.1807_1809del	ENSP00000441445.1:p.Glu603del
ENST00000537245.6:c.1711_1713del	ENSP00000439625.2:p.Glu571del
ENST00000673471.2:c.1897_1899del	ENSP00000500749.1:p.Glu633del
ENST00000674790.1:c.*1812_*1814del	ENSP00000502815.1:n.*1812_*1814del
ENST00000674943.1:n.262_264del
ENST00000675123.1:c.1600_1602del	ENSP00000502132.1:p.Glu534del
ENST00000675548.1:c.*1428_*1430del	ENSP00000502684.1:n.*1428_*1430del
ENST00000675694.1:c.1600_1602del	ENSP00000501925.1:p.Glu534del
ENST00000676401.1:n.147_149del
ENST00000340850.9:c.1600_1602del	ENSP00000344570.5:p.Glu534del
ENST00000377725.5:c.1600_1602del	ENSP00000366954.1:p.Glu534del
ENST00000377728.7:c.1600_1602del	ENSP00000366957.3:p.Glu534del
ENST00000377732.5:c.1711_1713del	ENSP00000366961.1:p.Glu571del
ENST00000377740.4:c.1831_1833del	ENSP00000366969.3:p.Glu611del
ENST00000377748.5:c.1831_1833del	ENSP00000366977.1:p.Glu611del
ENST00000400913.5:c.1600_1602del	ENSP00000383704.1:p.Glu534del
ENST00000400915.7:c.1768_1770del	ENSP00000383706.3:p.Glu590del
ENST00000487949.4:n.802_804del
ENST00000489097.5:n.2076_2078del
ENST00000535355.5:c.1807_1809del	ENSP00000441445.1:p.Glu603del
ENST00000537245.5:c.1837_1839del	ENSP00000439625.1:p.Glu613del
NM_001042663.1:c.1768_1770del	NP_001036128.1:p.Glu590del
NM_001042664.1:c.1600_1602del	NP_001036129.1:p.Glu534del
NM_001042665.1:c.1600_1602del	NP_001036130.1:p.Glu534del
NM_001265592.1:c.1837_1839del	NP_001252521.1:p.Glu613del
NM_001265593.1:c.1807_1809del	NP_001252522.1:p.Glu603del
NM_001265594.1:c.1600_1602del	NP_001252523.1:p.Glu534del
NM_020631.4:c.1600_1602del	NP_065682.2:p.Glu534del
NM_198681.3:c.1831_1833del	NP_941374.2:p.Glu611del
NM_001042663.2:c.1768_1770del	NP_001036128.1:p.Glu590del
NM_001265594.2:c.1600_1602del	NP_001252523.1:p.Glu534del
NM_020631.5:c.1600_1602del	NP_065682.2:p.Glu534del
NM_001042663.3:c.1711_1713del	NP_001036128.2:p.Glu571del
NM_001265592.2:c.1711_1713del	NP_001252521.2:p.Glu571del
NM_020631.6:c.1600_1602del MANE Select	NP_065682.2:p.Glu534del
NM_198681.4:c.1600_1602del	NP_941374.3:p.Glu534del