Canonical Allele Identifier: CA1139655927

Gene: PLEKHG5

Linked Data

• ClinVar Variation Id: 950561
• ClinVar RCV Id: RCV001222295
• dbSNP Id: rs1644550472

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470838_6470839del , CM000663.2:g.6470838_6470839del	GRCh38
NC_000001.10:g.6530898_6530899del , CM000663.1:g.6530898_6530899del	GRCh37
NC_000001.9:g.6453485_6453486del	NCBI36
NG_007978.1:g.54171_54172del , LRG_262:g.54171_54172del
NG_029910.1:g.357_358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1438_1439del	ENSP00000344570.5:p.Met480AlafsTer?
ENST00000377728.8:c.1438_1439del MANE Select	ENSP00000366957.3:p.Met480AlafsTer?
ENST00000377740.5:c.1438_1439del	ENSP00000366969.4:p.Met480AlafsTer?
ENST00000377748.6:c.1612_1613del	ENSP00000366977.2:p.Met538AlafsTer?
ENST00000400913.6:c.1438_1439del	ENSP00000383704.1:p.Met480AlafsTer?
ENST00000400915.8:c.1549_1550del	ENSP00000383706.4:p.Met517AlafsTer?
ENST00000489097.6:n.1914_1915del
ENST00000535355.6:c.1645_1646del	ENSP00000441445.1:p.Met549AlafsTer?
ENST00000537245.6:c.1549_1550del	ENSP00000439625.2:p.Met517AlafsTer?
ENST00000673471.2:c.1735_1736del	ENSP00000500749.1:p.Met579AlafsTer?
ENST00000674685.1:n.471_472del
ENST00000674790.1:c.*1650_*1651del	ENSP00000502815.1:n.*1650_*1651del
ENST00000674943.1:n.100_101del
ENST00000675123.1:c.1438_1439del	ENSP00000502132.1:p.Met480AlafsTer?
ENST00000675548.1:c.*1266_*1267del	ENSP00000502684.1:n.*1266_*1267del
ENST00000675694.1:c.1438_1439del	ENSP00000501925.1:p.Met480AlafsTer?
ENST00000340850.9:c.1438_1439del	ENSP00000344570.5:p.Met480AlafsTer?
ENST00000377725.5:c.1438_1439del	ENSP00000366954.1:p.Met480AlafsTer?
ENST00000377728.7:c.1438_1439del	ENSP00000366957.3:p.Met480AlafsTer?
ENST00000377732.5:c.1549_1550del	ENSP00000366961.1:p.Met517AlafsTer?
ENST00000377740.4:c.1669_1670del	ENSP00000366969.3:p.Met557AlafsTer?
ENST00000377748.5:c.1669_1670del	ENSP00000366977.1:p.Met557AlafsTer?
ENST00000400913.5:c.1438_1439del	ENSP00000383704.1:p.Met480AlafsTer?
ENST00000400915.7:c.1606_1607del	ENSP00000383706.3:p.Met536AlafsTer?
ENST00000487949.4:n.640_641del
ENST00000489097.5:n.1914_1915del
ENST00000535355.5:c.1645_1646del	ENSP00000441445.1:p.Met549AlafsTer?
ENST00000537245.5:c.1675_1676del	ENSP00000439625.1:p.Met559AlafsTer?
NM_001042663.1:c.1606_1607del	NP_001036128.1:p.Met536AlafsTer?
NM_001042664.1:c.1438_1439del	NP_001036129.1:p.Met480AlafsTer?
NM_001042665.1:c.1438_1439del	NP_001036130.1:p.Met480AlafsTer?
NM_001265592.1:c.1675_1676del	NP_001252521.1:p.Met559AlafsTer?
NM_001265593.1:c.1645_1646del	NP_001252522.1:p.Met549AlafsTer?
NM_001265594.1:c.1438_1439del	NP_001252523.1:p.Met480AlafsTer?
NM_020631.4:c.1438_1439del	NP_065682.2:p.Met480AlafsTer?
NM_198681.3:c.1669_1670del	NP_941374.2:p.Met557AlafsTer?
NM_001042663.2:c.1606_1607del	NP_001036128.1:p.Met536AlafsTer?
NM_001265594.2:c.1438_1439del	NP_001252523.1:p.Met480AlafsTer?
NM_020631.5:c.1438_1439del	NP_065682.2:p.Met480AlafsTer?
NM_001042663.3:c.1549_1550del	NP_001036128.2:p.Met517AlafsTer?
NM_001265592.2:c.1549_1550del	NP_001252521.2:p.Met517AlafsTer?
NM_020631.6:c.1438_1439del MANE Select	NP_065682.2:p.Met480AlafsTer?
NM_198681.4:c.1438_1439del	NP_941374.3:p.Met480AlafsTer?