Canonical Allele Identifier: CA561490

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs776550281
• ExAC: 1:6530789 G / GGTTA
• gnomAD v2: 1-6530789-G-GGTTA
• MyVariant Identifiers: chr1:g.6530789_6530790insGTTA (hg19) ; chr1:g.6470729_6470730insGTTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470730_6470733dup , CM000663.2:g.6470730_6470733dup	GRCh38
NC_000001.10:g.6530790_6530793dup , CM000663.1:g.6530790_6530793dup	GRCh37
NC_000001.9:g.6453377_6453380dup	NCBI36
NG_007978.1:g.54277_54280dup , LRG_262:g.54277_54280dup
NG_029910.1:g.463_466dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1542+2_1542+5dup	ENSP00000344570.5:n.1542+2_1542+5dup
ENST00000377728.8:c.1542+2_1542+5dup MANE Select	ENSP00000366957.3:n.1542+2_1542+5dup
ENST00000377740.5:c.1542+2_1542+5dup	ENSP00000366969.4:n.1542+2_1542+5dup
ENST00000377748.6:c.1716+2_1716+5dup	ENSP00000366977.2:n.1716+2_1716+5dup
ENST00000400913.6:c.1542+2_1542+5dup	ENSP00000383704.1:n.1542+2_1542+5dup
ENST00000400915.8:c.1653+2_1653+5dup	ENSP00000383706.4:n.1653+2_1653+5dup
ENST00000489097.6:n.2018+2_2018+5dup
ENST00000535355.6:c.1749+2_1749+5dup	ENSP00000441445.1:n.1749+2_1749+5dup
ENST00000537245.6:c.1653+2_1653+5dup	ENSP00000439625.2:n.1653+2_1653+5dup
ENST00000673471.2:c.1839+2_1839+5dup	ENSP00000500749.1:n.1839+2_1839+5dup
ENST00000674685.1:n.575+2_575+5dup
ENST00000674790.1:c.*1754+2_*1754+5dup	ENSP00000502815.1:n.*1754+2_*1754+5dup
ENST00000674943.1:n.204+2_204+5dup
ENST00000675123.1:c.1542+2_1542+5dup	ENSP00000502132.1:n.1542+2_1542+5dup
ENST00000675548.1:c.*1370+2_*1370+5dup	ENSP00000502684.1:n.*1370+2_*1370+5dup
ENST00000675694.1:c.1542+2_1542+5dup	ENSP00000501925.1:n.1542+2_1542+5dup
ENST00000340850.9:c.1542+2_1542+5dup	ENSP00000344570.5:n.1542+2_1542+5dup
ENST00000377725.5:c.1542+2_1542+5dup	ENSP00000366954.1:n.1542+2_1542+5dup
ENST00000377728.7:c.1542+2_1542+5dup	ENSP00000366957.3:n.1542+2_1542+5dup
ENST00000377732.5:c.1653+2_1653+5dup	ENSP00000366961.1:n.1653+2_1653+5dup
ENST00000377740.4:c.1773+2_1773+5dup	ENSP00000366969.3:n.1773+2_1773+5dup
ENST00000377748.5:c.1773+2_1773+5dup	ENSP00000366977.1:n.1773+2_1773+5dup
ENST00000400913.5:c.1542+2_1542+5dup	ENSP00000383704.1:n.1542+2_1542+5dup
ENST00000400915.7:c.1710+2_1710+5dup	ENSP00000383706.3:n.1710+2_1710+5dup
ENST00000487949.4:n.744+2_744+5dup
ENST00000489097.5:n.2018+2_2018+5dup
ENST00000535355.5:c.1749+2_1749+5dup	ENSP00000441445.1:n.1749+2_1749+5dup
ENST00000537245.5:c.1779+2_1779+5dup	ENSP00000439625.1:n.1779+2_1779+5dup
NM_001042663.1:c.1710+2_1710+5dup	NP_001036128.1:n.1710+2_1710+5dup
NM_001042664.1:c.1542+2_1542+5dup	NP_001036129.1:n.1542+2_1542+5dup
NM_001042665.1:c.1542+2_1542+5dup	NP_001036130.1:n.1542+2_1542+5dup
NM_001265592.1:c.1779+2_1779+5dup	NP_001252521.1:n.1779+2_1779+5dup
NM_001265593.1:c.1749+2_1749+5dup	NP_001252522.1:n.1749+2_1749+5dup
NM_001265594.1:c.1542+2_1542+5dup	NP_001252523.1:n.1542+2_1542+5dup
NM_020631.4:c.1542+2_1542+5dup	NP_065682.2:n.1542+2_1542+5dup
NM_198681.3:c.1773+2_1773+5dup	NP_941374.2:n.1773+2_1773+5dup
NM_001042663.2:c.1710+2_1710+5dup	NP_001036128.1:n.1710+2_1710+5dup
NM_001265594.2:c.1542+2_1542+5dup	NP_001252523.1:n.1542+2_1542+5dup
NM_020631.5:c.1542+2_1542+5dup	NP_065682.2:n.1542+2_1542+5dup
NM_001042663.3:c.1653+2_1653+5dup	NP_001036128.2:n.1653+2_1653+5dup
NM_001265592.2:c.1653+2_1653+5dup	NP_001252521.2:n.1653+2_1653+5dup
NM_020631.6:c.1542+2_1542+5dup MANE Select	NP_065682.2:n.1542+2_1542+5dup
NM_198681.4:c.1542+2_1542+5dup	NP_941374.3:n.1542+2_1542+5dup