Canonical Allele Identifier: CA3275507058
Community Standard Title: NM_000314.8(PTEN):c.701_702delinsTC (p.Arg234Leu)
Gene: PTEN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87957919_87957920delinsTC , CM000672.2:g.87957919_87957920delinsTC GRCh38
NC_000010.10:g.89717676_89717677delinsTC , CM000672.1:g.89717676_89717677delinsTC GRCh37
NC_000010.9:g.89707656_89707657delinsTC NCBI36
NG_007466.2:g.99481_99482delinsTC , LRG_311:g.99481_99482delinsTC

Transcript Alleles

HGVS Amino-acid Change
NM_000314.8:c.701_702delinsTC MANE Select NP_000305.3:p.Arg234Leu
ENST00000371953.8:c.701_702delinsTC MANE Select ENSP00000361021.3:p.Arg234Leu
NM_000314.5:c.701_702delinsTC NP_000305.3:p.Arg234Leu
NM_000314.6:c.701_702delinsTC NP_000305.3:p.Arg234Leu
NM_000314.7:c.701_702delinsTC NP_000305.3:p.Arg234Leu
NM_001304717.2:c.1220_1221delinsTC NP_001291646.2:p.Arg407Leu
NM_001304717.5:c.1220_1221delinsTC NP_001291646.4:p.Arg407Leu
NM_001304718.1:c.110_111delinsTC NP_001291647.1:p.Arg37Leu
NM_001304718.2:c.110_111delinsTC NP_001291647.1:p.Arg37Leu
ENST00000371953.7:c.701_702delinsTC ENSP00000361021.3:p.Arg234Leu
ENST00000472832.2:c.128_129delinsTC ENSP00000483066.1:p.Arg43Leu
ENST00000472832.3:c.701_702delinsTC ENSP00000483066.2:p.Arg234Leu
ENST00000686459.1:c.*287_*288delinsTC ENSP00000508909.1:n.*287_*288delinsTC
ENST00000688158.1:c.*812_*813delinsTC ENSP00000509254.1:n.*812_*813delinsTC
ENST00000688158.2:n.1436_1437delinsTC
ENST00000688308.1:c.701_702delinsTC ENSP00000508752.1:p.Arg234Leu
ENST00000688922.1:c.622_623delinsTC
ENST00000688922.2:c.*531_*532delinsTC ENSP00000508742.2:n.*531_*532delinsTC
ENST00000693560.1:c.1220_1221delinsTC ENSP00000509861.1:p.Arg407Leu
ENST00000700021.1:c.656_657delinsTC ENSP00000514757.1:p.Arg219Leu
ENST00000700022.1:c.*40_*41delinsTC ENSP00000514758.1:n.*40_*41delinsTC
ENST00000700023.1:n.1859_1860delinsTC
ENST00000700024.1:n.2093_2094delinsTC
ENST00000700025.1:n.1470_1471delinsTC
ENST00000700026.1:n.338_339delinsTC
ENST00000700029.1:c.535_536delinsTC
ENST00000700029.2:c.701_702delinsTC ENSP00000514759.2:p.Arg234Leu
ENST00000706954.1:c.701_702delinsTC ENSP00000516674.1:p.Arg234Leu
ENST00000706955.1:c.*736_*737delinsTC ENSP00000516675.1:n.*736_*737delinsTC
ENST00000710265.1:c.701_702delinsTC ENSP00000518161.1:p.Arg234Leu
XM_006717926.2:c.656_657delinsTC XP_006717989.1:p.Arg219Leu
XM_011539981.1:c.701_702delinsTC XP_011538283.1:p.Arg234Leu
XM_011539982.1:c.605_606delinsTC XP_011538284.1:p.Arg202Leu
XR_945791.1:n.1271_1272delinsTC