Canonical Allele Identifier: CA2680776296

Gene: PLEKHG1

Linked Data

• gnomAD v4: 6-150839980-GAGAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150839981_150839984del , CM000668.2:g.150839981_150839984del	GRCh38
NC_000006.11:g.151161117_151161120del , CM000668.1:g.151161117_151161120del	GRCh37
NC_000006.10:g.151202810_151202813del	NCBI36
NG_051299.1:g.245119_245122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696526.1:c.3243_3246del MANE Select	ENSP00000512689.1:p.Asp1082GlyfsTer12
ENST00000644968.1:c.3243_3246del	ENSP00000496254.1:p.Asp1082GlyfsTer12
ENST00000358517.6:c.3243_3246del	ENSP00000351318.2:p.Asp1082GlyfsTer12
ENST00000367328.5:c.3243_3246del	ENSP00000356297.1:p.Asp1082GlyfsTer12
ENST00000475490.1:c.1158-1054_1158-1051del	ENSP00000433107.1:n.1158-1054_1158-1051del
NM_001029884.1:c.3243_3246del	NP_001025055.1:p.Asp1082GlyfsTer12
XM_005267064.2:c.3420_3423del	XP_005267121.1:p.Asp1141GlyfsTer12
XM_005267065.2:c.3243_3246del	XP_005267122.1:p.Asp1082GlyfsTer12
XM_005267066.1:c.3243_3246del	XP_005267123.1:p.Asp1082GlyfsTer12
XM_006715521.1:c.3243_3246del	XP_006715584.1:p.Asp1082GlyfsTer12
XM_006715522.2:c.3243_3246del	XP_006715585.1:p.Asp1082GlyfsTer12
XM_011535981.1:c.3459_3462del	XP_011534283.1:p.Asp1154GlyfsTer12
XM_011535982.1:c.3420_3423del	XP_011534284.1:p.Asp1141GlyfsTer12
XM_011535983.1:c.3243_3246del	XP_011534285.1:p.Asp1082GlyfsTer12
NM_001029884.2:c.3243_3246del	NP_001025055.1:p.Asp1082GlyfsTer12
NM_001329798.1:c.3420_3423del	NP_001316727.1:p.Asp1141GlyfsTer12
NM_001329799.1:c.3363_3366del	NP_001316728.1:p.Asp1122GlyfsTer12
NM_001329800.1:c.3243_3246del	NP_001316729.1:p.Asp1082GlyfsTer12
NM_001329801.1:c.3243_3246del	NP_001316730.1:p.Asp1082GlyfsTer12
NM_001329802.1:c.3204_3207del	NP_001316731.1:p.Asp1069GlyfsTer12
NM_001329803.1:c.3126_3129del	NP_001316732.1:p.Asp1043GlyfsTer12
NM_001329804.1:c.1617-1054_1617-1051del	NP_001316733.1:n.1617-1054_1617-1051del
NM_001329805.1:c.1617-1054_1617-1051del	NP_001316734.1:n.1617-1054_1617-1051del
NM_001329806.1:c.1617-1054_1617-1051del	NP_001316735.1:n.1617-1054_1617-1051del
NM_001029884.3:c.3243_3246del MANE Select	NP_001025055.1:p.Asp1082GlyfsTer12
NM_001329798.2:c.3420_3423del	NP_001316727.1:p.Asp1141GlyfsTer12
NM_001329799.2:c.3363_3366del	NP_001316728.1:p.Asp1122GlyfsTer12
NM_001329800.2:c.3243_3246del	NP_001316729.1:p.Asp1082GlyfsTer12
NM_001329801.2:c.3243_3246del	NP_001316730.1:p.Asp1082GlyfsTer12
NM_001329802.2:c.3204_3207del	NP_001316731.1:p.Asp1069GlyfsTer12
NM_001329803.2:c.3126_3129del	NP_001316732.1:p.Asp1043GlyfsTer12
NM_001329804.2:c.1617-1054_1617-1051del	NP_001316733.1:n.1617-1054_1617-1051del
NM_001329805.2:c.1617-1054_1617-1051del	NP_001316734.1:n.1617-1054_1617-1051del
NM_001329806.2:c.1617-1054_1617-1051del	NP_001316735.1:n.1617-1054_1617-1051del