Canonical Allele Identifier: CA2579926529

Gene: PTEN

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87965291_87965292delinsGA , CM000672.2:g.87965291_87965292delinsGA	GRCh38
NC_000010.10:g.89725048_89725049delinsGA , CM000672.1:g.89725048_89725049delinsGA	GRCh37
NC_000010.9:g.89715028_89715029delinsGA	NCBI36
NG_007466.2:g.106853_106854delinsGA , LRG_311:g.106853_106854delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1124_1125delinsGA	ENSP00000514759.2:p.Lys375Arg
ENST00000710265.1:c.*60_*61delinsGA	ENSP00000518161.1:n.*60_*61delinsGA
ENST00000688158.2:n.1766_1767delinsGA
ENST00000688922.2:c.*861_*862delinsGA	ENSP00000508742.2:n.*861_*862delinsGA
ENST00000700021.1:c.986_987delinsGA	ENSP00000514757.1:p.Lys329Arg
ENST00000700022.1:c.*370_*371delinsGA	ENSP00000514758.1:n.*370_*371delinsGA
ENST00000700023.1:n.2189_2190delinsGA
ENST00000700024.1:n.2423_2424delinsGA
ENST00000706954.1:c.1031_1032delinsGA	ENSP00000516674.1:p.Lys344Arg
ENST00000706955.1:c.*1066_*1067delinsGA	ENSP00000516675.1:n.*1066_*1067delinsGA
ENST00000686459.1:c.*617_*618delinsGA	ENSP00000508909.1:n.*617_*618delinsGA
ENST00000688158.1:c.*1142_*1143delinsGA	ENSP00000509254.1:n.*1142_*1143delinsGA
ENST00000688308.1:c.1031_1032delinsGA	ENSP00000508752.1:p.Lys344Arg
ENST00000688922.1:c.952_953delinsGA
ENST00000693560.1:c.1550_1551delinsGA	ENSP00000509861.1:p.Lys517Arg
ENST00000371953.8:c.1031_1032delinsGA MANE Select	ENSP00000361021.3:p.Lys344Arg
ENST00000371953.7:c.1031_1032delinsGA	ENSP00000361021.3:p.Lys344Arg
NM_000314.5:c.1031_1032delinsGA	NP_000305.3:p.Lys344Arg
NM_000314.6:c.1031_1032delinsGA	NP_000305.3:p.Lys344Arg
NM_001304717.2:c.1550_1551delinsGA	NP_001291646.2:p.Lys517Arg
NM_001304718.1:c.440_441delinsGA	NP_001291647.1:p.Lys147Arg
XM_006717926.2:c.986_987delinsGA	XP_006717989.1:p.Lys329Arg
XM_011539982.1:c.935_936delinsGA	XP_011538284.1:p.Lys312Arg
XR_945791.1:n.1601_1602delinsGA
NM_000314.7:c.1031_1032delinsGA	NP_000305.3:p.Lys344Arg
NM_001304717.5:c.1550_1551delinsGA	NP_001291646.4:p.Lys517Arg
NM_001304718.2:c.440_441delinsGA	NP_001291647.1:p.Lys147Arg
NM_000314.8:c.1031_1032delinsGA MANE Select	NP_000305.3:p.Lys344Arg