Canonical Allele Identifier: CA2797498617
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489306_112489307insACACACCCAACACA , CM000674.2:g.112489306_112489307insACACACCCAACACA GRCh38
NC_000012.11:g.112927110_112927111insACACACCCAACACA , CM000674.1:g.112927110_112927111insACACACCCAACACA GRCh37
NC_000012.10:g.111411493_111411494insACACACCCAACACA NCBI36
NG_007459.1:g.75575_75576insACACACCCAACACA , LRG_614:g.75575_75576insACACACCCAACACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1599+131_1599+132insACACACCCAACACA ENSP00000491593.2:n.1599+131_1599+132insACACACCCAACACA
ENST00000685487.1:c.*119_*120insACACACCCAACACA ENSP00000508503.1:n.*119_*120insACACACCCAACACA
ENST00000687624.1:n.395_396insACACACCCAACACA
ENST00000687906.1:c.1485+131_1485+132insACACACCCAACACA ENSP00000509536.1:n.1485+131_1485+132insACACACCCAACACA
ENST00000688597.1:c.1224+7101_1224+7102insACACACCCAACACA ENSP00000510628.1:n.1224+7101_1224+7102insACACACCCAACACA
ENST00000688701.1:n.843+131_843+132insACACACCCAACACA
ENST00000690210.1:c.1599+131_1599+132insACACACCCAACACA ENSP00000509272.1:n.1599+131_1599+132insACACACCCAACACA
ENST00000690472.1:n.808+131_808+132insACACACCCAACACA
ENST00000692624.1:c.*145+131_*145+132insACACACCCAACACA ENSP00000508953.1:n.*145+131_*145+132insACACACCCAACACA
ENST00000351677.7:c.1599+131_1599+132insACACACCCAACACA MANE Select ENSP00000340944.3:n.1599+131_1599+132insACACACCCAACACA
ENST00000351677.6:c.1599+131_1599+132insACACACCCAACACA ENSP00000340944.2:n.1599+131_1599+132insACACACCCAACACA
ENST00000635625.1:c.1611+131_1611+132insACACACCCAACACA ENSP00000489597.1:n.1611+131_1611+132insACACACCCAACACA
NM_002834.3:c.1599+131_1599+132insACACACCCAACACA , LRG_614t1:c.1599+131_1599+132insACACACCCAACACA NP_002825.3:n.1599+131_1599+132insACACACCCAACACA
XM_006719526.1:c.1611+131_1611+132insACACACCCAACACA XP_006719589.1:n.1611+131_1611+132insACACACCCAACACA
XM_006719527.1:c.1497+131_1497+132insACACACCCAACACA XP_006719590.1:n.1497+131_1497+132insACACACCCAACACA
XM_011538613.1:c.1608+131_1608+132insACACACCCAACACA XP_011536915.1:n.1608+131_1608+132insACACACCCAACACA
NM_001330437.1:c.1611+131_1611+132insACACACCCAACACA NP_001317366.1:n.1611+131_1611+132insACACACCCAACACA
NM_002834.4:c.1599+131_1599+132insACACACCCAACACA NP_002825.3:n.1599+131_1599+132insACACACCCAACACA
XM_011538613.2:c.1608+131_1608+132insACACACCCAACACA XP_011536915.1:n.1608+131_1608+132insACACACCCAACACA
XM_017019722.1:c.1596+131_1596+132insACACACCCAACACA XP_016875211.1:n.1596+131_1596+132insACACACCCAACACA
NM_001330437.2:c.1611+131_1611+132insACACACCCAACACA NP_001317366.1:n.1611+131_1611+132insACACACCCAACACA
NM_001374625.1:c.1596+131_1596+132insACACACCCAACACA NP_001361554.1:n.1596+131_1596+132insACACACCCAACACA
NM_002834.5:c.1599+131_1599+132insACACACCCAACACA MANE Select NP_002825.3:n.1599+131_1599+132insACACACCCAACACA