Canonical Allele Identifier: CA2695203396

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957958_87957959insCG , CM000672.2:g.87957958_87957959insCG	GRCh38
NC_000010.10:g.89717715_89717716insCG , CM000672.1:g.89717715_89717716insCG	GRCh37
NC_000010.9:g.89707695_89707696insCG	NCBI36
NG_007466.2:g.99520_99521insCG , LRG_311:g.99520_99521insCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000700029.2:c.740_741insCG	ENSP00000514759.2:p.Leu247PhefsTer10
ENST00000710265.1:c.740_741insCG	ENSP00000518161.1:p.Leu247PhefsTer10
ENST00000472832.3:c.740_741insCG	ENSP00000483066.2:p.Leu247PhefsTer10
ENST00000688158.2:n.1475_1476insCG
ENST00000688922.2:c.*570_*571insCG	ENSP00000508742.2:n.*570_*571insCG
ENST00000700021.1:c.695_696insCG	ENSP00000514757.1:p.Leu232PhefsTer10
ENST00000700022.1:c.*79_*80insCG	ENSP00000514758.1:n.*79_*80insCG
ENST00000700023.1:n.1898_1899insCG
ENST00000700024.1:n.2132_2133insCG
ENST00000700025.1:n.1509_1510insCG
ENST00000700026.1:n.377_378insCG
ENST00000700029.1:c.574_575insCG
ENST00000706954.1:c.740_741insCG	ENSP00000516674.1:p.Leu247PhefsTer10
ENST00000706955.1:c.*775_*776insCG	ENSP00000516675.1:n.*775_*776insCG
ENST00000686459.1:c.*326_*327insCG	ENSP00000508909.1:n.*326_*327insCG
ENST00000688158.1:c.*851_*852insCG	ENSP00000509254.1:n.*851_*852insCG
ENST00000688308.1:c.740_741insCG	ENSP00000508752.1:p.Leu247PhefsTer10
ENST00000688922.1:c.661_662insCG
ENST00000693560.1:c.1259_1260insCG	ENSP00000509861.1:p.Leu420PhefsTer10
ENST00000371953.8:c.740_741insCG MANE Select	ENSP00000361021.3:p.Leu247PhefsTer10
ENST00000371953.7:c.740_741insCG	ENSP00000361021.3:p.Leu247PhefsTer10
ENST00000472832.2:c.167_168insCG	ENSP00000483066.1:p.Leu56PhefsTer10
NM_000314.5:c.740_741insCG	NP_000305.3:p.Leu247PhefsTer10
NM_000314.6:c.740_741insCG	NP_000305.3:p.Leu247PhefsTer10
NM_001304717.2:c.1259_1260insCG	NP_001291646.2:p.Leu420PhefsTer10
NM_001304718.1:c.149_150insCG	NP_001291647.1:p.Leu50PhefsTer10
XM_006717926.2:c.695_696insCG	XP_006717989.1:p.Leu232PhefsTer10
XM_011539981.1:c.740_741insCG	XP_011538283.1:p.Leu247PhefsTer10
XM_011539982.1:c.644_645insCG	XP_011538284.1:p.Leu215PhefsTer10
XR_945791.1:n.1310_1311insCG
NM_000314.7:c.740_741insCG	NP_000305.3:p.Leu247PhefsTer10
NM_001304717.5:c.1259_1260insCG	NP_001291646.4:p.Leu420PhefsTer10
NM_001304718.2:c.149_150insCG	NP_001291647.1:p.Leu50PhefsTer10
NM_000314.8:c.740_741insCG MANE Select	NP_000305.3:p.Leu247PhefsTer10