Canonical Allele Identifier: CA4048107

Gene: PLEKHG1

Linked Data

• dbSNP Id: rs749773056
• ExAC: 6:151161015 CAG / C
• gnomAD v2: 6-151161015-CAG-C
• gnomAD v4: 6-150839879-CAG-C
• MyVariant Identifiers: chr6:g.151161016_151161017del (hg19) ; chr6:g.150839880_150839881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150839884_150839885del , CM000668.2:g.150839884_150839885del	GRCh38
NC_000006.11:g.151161020_151161021del , CM000668.1:g.151161020_151161021del	GRCh37
NC_000006.10:g.151202713_151202714del	NCBI36
NG_051299.1:g.245022_245023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696526.1:c.3146_3147del MANE Select	ENSP00000512689.1:p.Glu1049ValfsTer?
ENST00000644968.1:c.3146_3147del	ENSP00000496254.1:p.Glu1049ValfsTer?
ENST00000358517.6:c.3146_3147del	ENSP00000351318.2:p.Glu1049ValfsTer?
ENST00000367328.5:c.3146_3147del	ENSP00000356297.1:p.Glu1049ValfsTer?
ENST00000475490.1:c.1158-1151_1158-1150del	ENSP00000433107.1:n.1158-1151_1158-1150del
NM_001029884.1:c.3146_3147del	NP_001025055.1:p.Glu1049ValfsTer?
XM_005267064.2:c.3323_3324del	XP_005267121.1:p.Glu1108ValfsTer?
XM_005267065.2:c.3146_3147del	XP_005267122.1:p.Glu1049ValfsTer?
XM_005267066.1:c.3146_3147del	XP_005267123.1:p.Glu1049ValfsTer?
XM_006715521.1:c.3146_3147del	XP_006715584.1:p.Glu1049ValfsTer?
XM_006715522.2:c.3146_3147del	XP_006715585.1:p.Glu1049ValfsTer?
XM_011535981.1:c.3362_3363del	XP_011534283.1:p.Glu1121ValfsTer?
XM_011535982.1:c.3323_3324del	XP_011534284.1:p.Glu1108ValfsTer?
XM_011535983.1:c.3146_3147del	XP_011534285.1:p.Glu1049ValfsTer?
NM_001029884.2:c.3146_3147del	NP_001025055.1:p.Glu1049ValfsTer?
NM_001329798.1:c.3323_3324del	NP_001316727.1:p.Glu1108ValfsTer?
NM_001329799.1:c.3266_3267del	NP_001316728.1:p.Glu1089ValfsTer?
NM_001329800.1:c.3146_3147del	NP_001316729.1:p.Glu1049ValfsTer?
NM_001329801.1:c.3146_3147del	NP_001316730.1:p.Glu1049ValfsTer?
NM_001329802.1:c.3107_3108del	NP_001316731.1:p.Glu1036ValfsTer?
NM_001329803.1:c.3029_3030del	NP_001316732.1:p.Glu1010ValfsTer?
NM_001329804.1:c.1617-1151_1617-1150del	NP_001316733.1:n.1617-1151_1617-1150del
NM_001329805.1:c.1617-1151_1617-1150del	NP_001316734.1:n.1617-1151_1617-1150del
NM_001329806.1:c.1617-1151_1617-1150del	NP_001316735.1:n.1617-1151_1617-1150del
NM_001029884.3:c.3146_3147del MANE Select	NP_001025055.1:p.Glu1049ValfsTer?
NM_001329798.2:c.3323_3324del	NP_001316727.1:p.Glu1108ValfsTer?
NM_001329799.2:c.3266_3267del	NP_001316728.1:p.Glu1089ValfsTer?
NM_001329800.2:c.3146_3147del	NP_001316729.1:p.Glu1049ValfsTer?
NM_001329801.2:c.3146_3147del	NP_001316730.1:p.Glu1049ValfsTer?
NM_001329802.2:c.3107_3108del	NP_001316731.1:p.Glu1036ValfsTer?
NM_001329803.2:c.3029_3030del	NP_001316732.1:p.Glu1010ValfsTer?
NM_001329804.2:c.1617-1151_1617-1150del	NP_001316733.1:n.1617-1151_1617-1150del
NM_001329805.2:c.1617-1151_1617-1150del	NP_001316734.1:n.1617-1151_1617-1150del
NM_001329806.2:c.1617-1151_1617-1150del	NP_001316735.1:n.1617-1151_1617-1150del