Canonical Allele Identifier: CA2642977178

Gene: PLEKHG5

Linked Data

• gnomAD v4: 1-6470635-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470637_6470638del , CM000663.2:g.6470637_6470638del	GRCh38
NC_000001.10:g.6530697_6530698del , CM000663.1:g.6530697_6530698del	GRCh37
NC_000001.9:g.6453284_6453285del	NCBI36
NG_007978.1:g.54373_54374del , LRG_262:g.54373_54374del
NG_029910.1:g.559_560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1549_1550del	ENSP00000344570.5:p.Ser517ArgfsTer?
ENST00000377728.8:c.1549_1550del MANE Select	ENSP00000366957.3:p.Ser517ArgfsTer?
ENST00000377740.5:c.1549_1550del	ENSP00000366969.4:p.Ser517ArgfsTer?
ENST00000377748.6:c.1723_1724del	ENSP00000366977.2:p.Ser575ArgfsTer?
ENST00000400913.6:c.1549_1550del	ENSP00000383704.1:p.Ser517ArgfsTer?
ENST00000400915.8:c.1660_1661del	ENSP00000383706.4:p.Ser554ArgfsTer?
ENST00000489097.6:n.2025_2026del
ENST00000535355.6:c.1756_1757del	ENSP00000441445.1:p.Ser586ArgfsTer?
ENST00000537245.6:c.1660_1661del	ENSP00000439625.2:p.Ser554ArgfsTer?
ENST00000673471.2:c.1846_1847del	ENSP00000500749.1:p.Ser616ArgfsTer?
ENST00000674790.1:c.*1761_*1762del	ENSP00000502815.1:n.*1761_*1762del
ENST00000674943.1:n.211_212del
ENST00000675123.1:c.1549_1550del	ENSP00000502132.1:p.Ser517ArgfsTer?
ENST00000675548.1:c.*1377_*1378del	ENSP00000502684.1:n.*1377_*1378del
ENST00000675694.1:c.1549_1550del	ENSP00000501925.1:p.Ser517ArgfsTer?
ENST00000676401.1:n.96_97del
ENST00000340850.9:c.1549_1550del	ENSP00000344570.5:p.Ser517ArgfsTer?
ENST00000377725.5:c.1549_1550del	ENSP00000366954.1:p.Ser517ArgfsTer?
ENST00000377728.7:c.1549_1550del	ENSP00000366957.3:p.Ser517ArgfsTer?
ENST00000377732.5:c.1660_1661del	ENSP00000366961.1:p.Ser554ArgfsTer?
ENST00000377740.4:c.1780_1781del	ENSP00000366969.3:p.Ser594ArgfsTer?
ENST00000377748.5:c.1780_1781del	ENSP00000366977.1:p.Ser594ArgfsTer?
ENST00000400913.5:c.1549_1550del	ENSP00000383704.1:p.Ser517ArgfsTer?
ENST00000400915.7:c.1717_1718del	ENSP00000383706.3:p.Ser573ArgfsTer?
ENST00000487949.4:n.751_752del
ENST00000489097.5:n.2025_2026del
ENST00000535355.5:c.1756_1757del	ENSP00000441445.1:p.Ser586ArgfsTer?
ENST00000537245.5:c.1786_1787del	ENSP00000439625.1:p.Ser596ArgfsTer?
NM_001042663.1:c.1717_1718del	NP_001036128.1:p.Ser573ArgfsTer?
NM_001042664.1:c.1549_1550del	NP_001036129.1:p.Ser517ArgfsTer?
NM_001042665.1:c.1549_1550del	NP_001036130.1:p.Ser517ArgfsTer?
NM_001265592.1:c.1786_1787del	NP_001252521.1:p.Ser596ArgfsTer?
NM_001265593.1:c.1756_1757del	NP_001252522.1:p.Ser586ArgfsTer?
NM_001265594.1:c.1549_1550del	NP_001252523.1:p.Ser517ArgfsTer?
NM_020631.4:c.1549_1550del	NP_065682.2:p.Ser517ArgfsTer?
NM_198681.3:c.1780_1781del	NP_941374.2:p.Ser594ArgfsTer?
NM_001042663.2:c.1717_1718del	NP_001036128.1:p.Ser573ArgfsTer?
NM_001265594.2:c.1549_1550del	NP_001252523.1:p.Ser517ArgfsTer?
NM_020631.5:c.1549_1550del	NP_065682.2:p.Ser517ArgfsTer?
NM_001042663.3:c.1660_1661del	NP_001036128.2:p.Ser554ArgfsTer?
NM_001265592.2:c.1660_1661del	NP_001252521.2:p.Ser554ArgfsTer?
NM_020631.6:c.1549_1550del MANE Select	NP_065682.2:p.Ser517ArgfsTer?
NM_198681.4:c.1549_1550del	NP_941374.3:p.Ser517ArgfsTer?