Canonical Allele Identifier: CA595184729

Gene: PTEN

Linked Data

• dbSNP Id: rs1469735067
• gnomAD v2: 10-89720652-A-ATTTT
• gnomAD v3: 10-87960895-A-ATTTT
• gnomAD v4: 10-87960895-A-ATTTT
• MyVariant Identifiers: chr10:g.89720652_89720653insTTTT (hg19) ; chr10:g.87960895_87960896insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960895_87960896insTTTT , CM000672.2:g.87960895_87960896insTTTT	GRCh38
NC_000010.10:g.89720652_89720653insTTTT , CM000672.1:g.89720652_89720653insTTTT	GRCh37
NC_000010.9:g.89710632_89710633insTTTT	NCBI36
NG_007466.2:g.102457_102458insTTTT , LRG_311:g.102457_102458insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.896_897insTTTT	ENSP00000514759.2:p.Lys300PhefsTer30
ENST00000710265.1:c.803_804insTTTT	ENSP00000518161.1:p.Lys269PhefsTer30
ENST00000472832.3:c.803_804insTTTT	ENSP00000483066.2:p.Lys269PhefsTer30
ENST00000688158.2:n.1538_1539insTTTT
ENST00000688922.2:c.*633_*634insTTTT	ENSP00000508742.2:n.*633_*634insTTTT
ENST00000700021.1:c.758_759insTTTT	ENSP00000514757.1:p.Lys254PhefsTer30
ENST00000700022.1:c.*142_*143insTTTT	ENSP00000514758.1:n.*142_*143insTTTT
ENST00000700023.1:n.1961_1962insTTTT
ENST00000700024.1:n.2195_2196insTTTT
ENST00000700025.1:n.1572_1573insTTTT
ENST00000700026.1:n.440_441insTTTT
ENST00000700029.1:c.730_731insTTTT
ENST00000706954.1:c.803_804insTTTT	ENSP00000516674.1:p.Lys269PhefsTer30
ENST00000706955.1:c.*838_*839insTTTT	ENSP00000516675.1:n.*838_*839insTTTT
ENST00000686459.1:c.*389_*390insTTTT	ENSP00000508909.1:n.*389_*390insTTTT
ENST00000688158.1:c.*914_*915insTTTT	ENSP00000509254.1:n.*914_*915insTTTT
ENST00000688308.1:c.803_804insTTTT	ENSP00000508752.1:p.Lys269PhefsTer30
ENST00000688922.1:c.724_725insTTTT
ENST00000693560.1:c.1322_1323insTTTT	ENSP00000509861.1:p.Lys442PhefsTer30
ENST00000371953.8:c.803_804insTTTT MANE Select	ENSP00000361021.3:p.Lys269PhefsTer30
ENST00000371953.7:c.803_804insTTTT	ENSP00000361021.3:p.Lys269PhefsTer30
ENST00000472832.2:c.230_231insTTTT	ENSP00000483066.1:p.Lys78PhefsTer30
NM_000314.5:c.803_804insTTTT	NP_000305.3:p.Lys269PhefsTer30
NM_000314.6:c.803_804insTTTT	NP_000305.3:p.Lys269PhefsTer30
NM_001304717.2:c.1322_1323insTTTT	NP_001291646.2:p.Lys442PhefsTer30
NM_001304718.1:c.212_213insTTTT	NP_001291647.1:p.Lys72PhefsTer30
XM_006717926.2:c.758_759insTTTT	XP_006717989.1:p.Lys254PhefsTer30
XM_011539981.1:c.803_804insTTTT	XP_011538283.1:p.Lys269PhefsTer30
XM_011539982.1:c.707_708insTTTT	XP_011538284.1:p.Lys237PhefsTer30
XR_945791.1:n.1373_1374insTTTT
NM_000314.7:c.803_804insTTTT	NP_000305.3:p.Lys269PhefsTer30
NM_001304717.5:c.1322_1323insTTTT	NP_001291646.4:p.Lys442PhefsTer30
NM_001304718.2:c.212_213insTTTT	NP_001291647.1:p.Lys72PhefsTer30
NM_000314.8:c.803_804insTTTT MANE Select	NP_000305.3:p.Lys269PhefsTer30