Canonical Allele Identifier: CA595184730

Gene: PTEN

Linked Data

• dbSNP Id: rs1486279932
• gnomAD v2: 10-89720761-C-CAAAA
• MyVariant Identifiers: chr10:g.89720761_89720762insAAAA (hg19) ; chr10:g.87961004_87961005insAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87961005_87961006insAAAA , CM000672.2:g.87961005_87961006insAAAA	GRCh38
NC_000010.10:g.89720762_89720763insAAAA , CM000672.1:g.89720762_89720763insAAAA	GRCh37
NC_000010.9:g.89710742_89710743insAAAA	NCBI36
NG_007466.2:g.102567_102568insAAAA , LRG_311:g.102567_102568insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.1006_1007insAAAA	ENSP00000514759.2:p.Ser336LysfsTer8
ENST00000710265.1:c.913_914insAAAA	ENSP00000518161.1:p.Ser305LysfsTer8
ENST00000472832.3:c.913_914insAAAA	ENSP00000483066.2:p.Ser305LysfsTer8
ENST00000688158.2:n.1648_1649insAAAA
ENST00000688922.2:c.*743_*744insAAAA	ENSP00000508742.2:n.*743_*744insAAAA
ENST00000700021.1:c.868_869insAAAA	ENSP00000514757.1:p.Ser290LysfsTer8
ENST00000700022.1:c.*252_*253insAAAA	ENSP00000514758.1:n.*252_*253insAAAA
ENST00000700023.1:n.2071_2072insAAAA
ENST00000700024.1:n.2305_2306insAAAA
ENST00000700025.1:n.1682_1683insAAAA
ENST00000700026.1:n.550_551insAAAA
ENST00000706954.1:c.913_914insAAAA	ENSP00000516674.1:p.Ser305LysfsTer8
ENST00000706955.1:c.*948_*949insAAAA	ENSP00000516675.1:n.*948_*949insAAAA
ENST00000686459.1:c.*499_*500insAAAA	ENSP00000508909.1:n.*499_*500insAAAA
ENST00000688158.1:c.*1024_*1025insAAAA	ENSP00000509254.1:n.*1024_*1025insAAAA
ENST00000688308.1:c.913_914insAAAA	ENSP00000508752.1:p.Ser305LysfsTer8
ENST00000688922.1:c.834_835insAAAA
ENST00000693560.1:c.1432_1433insAAAA	ENSP00000509861.1:p.Ser478LysfsTer8
ENST00000371953.8:c.913_914insAAAA MANE Select	ENSP00000361021.3:p.Ser305LysfsTer8
ENST00000371953.7:c.913_914insAAAA	ENSP00000361021.3:p.Ser305LysfsTer8
ENST00000472832.2:c.340_341insAAAA	ENSP00000483066.1:p.Ser114LysfsTer8
NM_000314.5:c.913_914insAAAA	NP_000305.3:p.Ser305LysfsTer8
NM_000314.6:c.913_914insAAAA	NP_000305.3:p.Ser305LysfsTer8
NM_001304717.2:c.1432_1433insAAAA	NP_001291646.2:p.Ser478LysfsTer8
NM_001304718.1:c.322_323insAAAA	NP_001291647.1:p.Ser108LysfsTer8
XM_006717926.2:c.868_869insAAAA	XP_006717989.1:p.Ser290LysfsTer8
XM_011539981.1:c.913_914insAAAA	XP_011538283.1:p.Ser305LysfsTer8
XM_011539982.1:c.817_818insAAAA	XP_011538284.1:p.Ser273LysfsTer8
XR_945791.1:n.1483_1484insAAAA
NM_000314.7:c.913_914insAAAA	NP_000305.3:p.Ser305LysfsTer8
NM_001304717.5:c.1432_1433insAAAA	NP_001291646.4:p.Ser478LysfsTer8
NM_001304718.2:c.322_323insAAAA	NP_001291647.1:p.Ser108LysfsTer8
NM_000314.8:c.913_914insAAAA MANE Select	NP_000305.3:p.Ser305LysfsTer8