Canonical Allele Identifier: CA521018770

Gene: PLEKHG5

Linked Data

• dbSNP Id: rs1360678779
• gnomAD v2: 1-6530570-T-TCCACTTCGTCG
• gnomAD v3: 1-6470510-T-TCCACTTCGTCG
• gnomAD v4: 1-6470510-T-TCCACTTCGTCG
• MyVariant Identifiers: chr1:g.6530570_6530571insCCACTTCGTCG (hg19) ; chr1:g.6470510_6470511insCCACTTCGTCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6470512_6470522dup , CM000663.2:g.6470512_6470522dup	GRCh38
NC_000001.10:g.6530572_6530582dup , CM000663.1:g.6530572_6530582dup	GRCh37
NC_000001.9:g.6453159_6453169dup	NCBI36
NG_007978.1:g.54489_54499dup , LRG_262:g.54489_54499dup
NG_029910.1:g.675_685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340850.10:c.1665_1675dup	ENSP00000344570.5:p.Asp559AlafsTer8
ENST00000377728.8:c.1665_1675dup MANE Select	ENSP00000366957.3:p.Asp559AlafsTer8
ENST00000377740.5:c.1665_1675dup	ENSP00000366969.4:p.Asp559AlafsTer8
ENST00000377748.6:c.1839_1849dup	ENSP00000366977.2:p.Asp617AlafsTer8
ENST00000400913.6:c.1665_1675dup	ENSP00000383704.1:p.Asp559AlafsTer8
ENST00000400915.8:c.1776_1786dup	ENSP00000383706.4:p.Asp596AlafsTer8
ENST00000489097.6:n.2141_2151dup
ENST00000535355.6:c.1872_1882dup	ENSP00000441445.1:p.Asp628AlafsTer8
ENST00000537245.6:c.1776_1786dup	ENSP00000439625.2:p.Asp596AlafsTer8
ENST00000673471.2:c.1962_1972dup	ENSP00000500749.1:p.Asp658AlafsTer8
ENST00000674790.1:c.*1877_*1887dup	ENSP00000502815.1:n.*1877_*1887dup
ENST00000674943.1:n.327_337dup
ENST00000675123.1:c.1665_1675dup	ENSP00000502132.1:p.Asp559AlafsTer8
ENST00000675548.1:c.*1493_*1503dup	ENSP00000502684.1:n.*1493_*1503dup
ENST00000675694.1:c.1665_1675dup	ENSP00000501925.1:p.Asp559AlafsTer8
ENST00000676401.1:n.212_222dup
ENST00000340850.9:c.1665_1675dup	ENSP00000344570.5:p.Asp559AlafsTer8
ENST00000377725.5:c.1665_1675dup	ENSP00000366954.1:p.Asp559AlafsTer8
ENST00000377728.7:c.1665_1675dup	ENSP00000366957.3:p.Asp559AlafsTer8
ENST00000377732.5:c.1776_1786dup	ENSP00000366961.1:p.Asp596AlafsTer8
ENST00000377740.4:c.1896_1906dup	ENSP00000366969.3:p.Asp636AlafsTer8
ENST00000377748.5:c.1896_1906dup	ENSP00000366977.1:p.Asp636AlafsTer8
ENST00000400913.5:c.1665_1675dup	ENSP00000383704.1:p.Asp559AlafsTer8
ENST00000400915.7:c.1833_1843dup	ENSP00000383706.3:p.Asp615AlafsTer8
ENST00000487949.4:n.867_877dup
ENST00000489097.5:n.2141_2151dup
ENST00000535355.5:c.1872_1882dup	ENSP00000441445.1:p.Asp628AlafsTer8
ENST00000537245.5:c.1902_1912dup	ENSP00000439625.1:p.Asp638AlafsTer8
NM_001042663.1:c.1833_1843dup	NP_001036128.1:p.Asp615AlafsTer8
NM_001042664.1:c.1665_1675dup	NP_001036129.1:p.Asp559AlafsTer8
NM_001042665.1:c.1665_1675dup	NP_001036130.1:p.Asp559AlafsTer8
NM_001265592.1:c.1902_1912dup	NP_001252521.1:p.Asp638AlafsTer8
NM_001265593.1:c.1872_1882dup	NP_001252522.1:p.Asp628AlafsTer8
NM_001265594.1:c.1665_1675dup	NP_001252523.1:p.Asp559AlafsTer8
NM_020631.4:c.1665_1675dup	NP_065682.2:p.Asp559AlafsTer8
NM_198681.3:c.1896_1906dup	NP_941374.2:p.Asp636AlafsTer8
NM_001042663.2:c.1833_1843dup	NP_001036128.1:p.Asp615AlafsTer8
NM_001265594.2:c.1665_1675dup	NP_001252523.1:p.Asp559AlafsTer8
NM_020631.5:c.1665_1675dup	NP_065682.2:p.Asp559AlafsTer8
NM_001042663.3:c.1776_1786dup	NP_001036128.2:p.Asp596AlafsTer8
NM_001265592.2:c.1776_1786dup	NP_001252521.2:p.Asp596AlafsTer8
NM_020631.6:c.1665_1675dup MANE Select	NP_065682.2:p.Asp559AlafsTer8
NM_198681.4:c.1665_1675dup	NP_941374.3:p.Asp559AlafsTer8