Canonical Allele Identifier: CA521018776

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1307374188
• gnomAD v2: 1-6530597-ACC-A
• gnomAD v4: 1-6470537-ACC-A
• MyVariant Identifiers: chr1:g.6530598_6530599del (hg19) ; chr1:g.6470538_6470539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470538_6470539del , CM000663.2:g.6470538_6470539del	GRCh38
NC_000001.10:g.6530598_6530599del , CM000663.1:g.6530598_6530599del	GRCh37
NC_000001.9:g.6453185_6453186del	NCBI36
NG_007978.1:g.54471_54472del , LRG_262:g.54471_54472del
NG_029910.1:g.657_658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1647_1648del	ENSP00000344570.5:p.Glu549AspfsTer?
ENST00000377728.8:c.1647_1648del MANE Select	ENSP00000366957.3:p.Glu549AspfsTer?
ENST00000377740.5:c.1647_1648del	ENSP00000366969.4:p.Glu549AspfsTer?
ENST00000377748.6:c.1821_1822del	ENSP00000366977.2:p.Glu607AspfsTer?
ENST00000400913.6:c.1647_1648del	ENSP00000383704.1:p.Glu549AspfsTer?
ENST00000400915.8:c.1758_1759del	ENSP00000383706.4:p.Glu586AspfsTer?
ENST00000489097.6:n.2123_2124del
ENST00000535355.6:c.1854_1855del	ENSP00000441445.1:p.Glu618AspfsTer?
ENST00000537245.6:c.1758_1759del	ENSP00000439625.2:p.Glu586AspfsTer?
ENST00000673471.2:c.1944_1945del	ENSP00000500749.1:p.Glu648AspfsTer?
ENST00000674790.1:c.*1859_*1860del	ENSP00000502815.1:n.*1859_*1860del
ENST00000674943.1:n.309_310del
ENST00000675123.1:c.1647_1648del	ENSP00000502132.1:p.Glu549AspfsTer?
ENST00000675548.1:c.*1475_*1476del	ENSP00000502684.1:n.*1475_*1476del
ENST00000675694.1:c.1647_1648del	ENSP00000501925.1:p.Glu549AspfsTer?
ENST00000676401.1:n.194_195del
ENST00000340850.9:c.1647_1648del	ENSP00000344570.5:p.Glu549AspfsTer?
ENST00000377725.5:c.1647_1648del	ENSP00000366954.1:p.Glu549AspfsTer?
ENST00000377728.7:c.1647_1648del	ENSP00000366957.3:p.Glu549AspfsTer?
ENST00000377732.5:c.1758_1759del	ENSP00000366961.1:p.Glu586AspfsTer?
ENST00000377740.4:c.1878_1879del	ENSP00000366969.3:p.Glu626AspfsTer?
ENST00000377748.5:c.1878_1879del	ENSP00000366977.1:p.Glu626AspfsTer?
ENST00000400913.5:c.1647_1648del	ENSP00000383704.1:p.Glu549AspfsTer?
ENST00000400915.7:c.1815_1816del	ENSP00000383706.3:p.Glu605AspfsTer?
ENST00000487949.4:n.849_850del
ENST00000489097.5:n.2123_2124del
ENST00000535355.5:c.1854_1855del	ENSP00000441445.1:p.Glu618AspfsTer?
ENST00000537245.5:c.1884_1885del	ENSP00000439625.1:p.Glu628AspfsTer?
NM_001042663.1:c.1815_1816del	NP_001036128.1:p.Glu605AspfsTer?
NM_001042664.1:c.1647_1648del	NP_001036129.1:p.Glu549AspfsTer?
NM_001042665.1:c.1647_1648del	NP_001036130.1:p.Glu549AspfsTer?
NM_001265592.1:c.1884_1885del	NP_001252521.1:p.Glu628AspfsTer?
NM_001265593.1:c.1854_1855del	NP_001252522.1:p.Glu618AspfsTer?
NM_001265594.1:c.1647_1648del	NP_001252523.1:p.Glu549AspfsTer?
NM_020631.4:c.1647_1648del	NP_065682.2:p.Glu549AspfsTer?
NM_198681.3:c.1878_1879del	NP_941374.2:p.Glu626AspfsTer?
NM_001042663.2:c.1815_1816del	NP_001036128.1:p.Glu605AspfsTer?
NM_001265594.2:c.1647_1648del	NP_001252523.1:p.Glu549AspfsTer?
NM_020631.5:c.1647_1648del	NP_065682.2:p.Glu549AspfsTer?
NM_001042663.3:c.1758_1759del	NP_001036128.2:p.Glu586AspfsTer?
NM_001265592.2:c.1758_1759del	NP_001252521.2:p.Glu586AspfsTer?
NM_020631.6:c.1647_1648del MANE Select	NP_065682.2:p.Glu549AspfsTer?
NM_198681.4:c.1647_1648del	NP_941374.3:p.Glu549AspfsTer?