Canonical Allele Identifier: CA2063741415
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489315_112489316delinsGC , CM000674.2:g.112489315_112489316delinsGC GRCh38
NC_000012.11:g.112927119_112927120delinsGC , CM000674.1:g.112927119_112927120delinsGC GRCh37
NC_000012.10:g.111411502_111411503delinsGC NCBI36
NG_007459.1:g.75584_75585delinsGC , LRG_614:g.75584_75585delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1599+140_1599+141delinsGC ENSP00000491593.2:n.1599+140_1599+141delinsGC
ENST00000685487.1:c.*128_*129delinsGC ENSP00000508503.1:n.*128_*129delinsGC
ENST00000687624.1:n.404_405delinsGC
ENST00000687906.1:c.1485+140_1485+141delinsGC ENSP00000509536.1:n.1485+140_1485+141delinsGC
ENST00000688597.1:c.1224+7110_1224+7111delinsGC ENSP00000510628.1:n.1224+7110_1224+7111delinsGC
ENST00000688701.1:n.843+140_843+141delinsGC
ENST00000690210.1:c.1599+140_1599+141delinsGC ENSP00000509272.1:n.1599+140_1599+141delinsGC
ENST00000690472.1:n.808+140_808+141delinsGC
ENST00000692624.1:c.*145+140_*145+141delinsGC ENSP00000508953.1:n.*145+140_*145+141delinsGC
ENST00000351677.7:c.1599+140_1599+141delinsGC MANE Select ENSP00000340944.3:n.1599+140_1599+141delinsGC
ENST00000351677.6:c.1599+140_1599+141delinsGC ENSP00000340944.2:n.1599+140_1599+141delinsGC
ENST00000635625.1:c.1611+140_1611+141delinsGC ENSP00000489597.1:n.1611+140_1611+141delinsGC
NM_002834.3:c.1599+140_1599+141delinsGC , LRG_614t1:c.1599+140_1599+141delinsGC NP_002825.3:n.1599+140_1599+141delinsGC
XM_006719526.1:c.1611+140_1611+141delinsGC XP_006719589.1:n.1611+140_1611+141delinsGC
XM_006719527.1:c.1497+140_1497+141delinsGC XP_006719590.1:n.1497+140_1497+141delinsGC
XM_011538613.1:c.1608+140_1608+141delinsGC XP_011536915.1:n.1608+140_1608+141delinsGC
NM_001330437.1:c.1611+140_1611+141delinsGC NP_001317366.1:n.1611+140_1611+141delinsGC
NM_002834.4:c.1599+140_1599+141delinsGC NP_002825.3:n.1599+140_1599+141delinsGC
XM_011538613.2:c.1608+140_1608+141delinsGC XP_011536915.1:n.1608+140_1608+141delinsGC
XM_017019722.1:c.1596+140_1596+141delinsGC XP_016875211.1:n.1596+140_1596+141delinsGC
NM_001330437.2:c.1611+140_1611+141delinsGC NP_001317366.1:n.1611+140_1611+141delinsGC
NM_001374625.1:c.1596+140_1596+141delinsGC NP_001361554.1:n.1596+140_1596+141delinsGC
NM_002834.5:c.1599+140_1599+141delinsGC MANE Select NP_002825.3:n.1599+140_1599+141delinsGC