Canonical Allele Identifier: CA2575299195
Gene: PTPN11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489181_112489187del , CM000674.2:g.112489181_112489187del GRCh38
NC_000012.11:g.112926985_112926991del , CM000674.1:g.112926985_112926991del GRCh37
NC_000012.10:g.111411368_111411374del NCBI36
NG_007459.1:g.75450_75456del , LRG_614:g.75450_75456del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1599+6_1599+12del ENSP00000491593.2:n.1599+6_1599+12del
ENST00000685487.1:c.1605_1611del ENSP00000508503.1:p.Ala536GlyfsTer?
ENST00000687624.1:n.270_276del
ENST00000687906.1:c.1485+6_1485+12del ENSP00000509536.1:n.1485+6_1485+12del
ENST00000688597.1:c.1224+6976_1224+6982del ENSP00000510628.1:n.1224+6976_1224+6982del
ENST00000688701.1:n.843+6_843+12del
ENST00000690210.1:c.1599+6_1599+12del ENSP00000509272.1:n.1599+6_1599+12del
ENST00000690472.1:n.808+6_808+12del
ENST00000692624.1:c.*145+6_*145+12del ENSP00000508953.1:n.*145+6_*145+12del
ENST00000351677.7:c.1599+6_1599+12del MANE Select ENSP00000340944.3:n.1599+6_1599+12del
ENST00000351677.6:c.1599+6_1599+12del ENSP00000340944.2:n.1599+6_1599+12del
ENST00000635625.1:c.1611+6_1611+12del ENSP00000489597.1:n.1611+6_1611+12del
NM_002834.3:c.1599+6_1599+12del , LRG_614t1:c.1599+6_1599+12del NP_002825.3:n.1599+6_1599+12del
XM_006719526.1:c.1611+6_1611+12del XP_006719589.1:n.1611+6_1611+12del
XM_006719527.1:c.1497+6_1497+12del XP_006719590.1:n.1497+6_1497+12del
XM_011538613.1:c.1608+6_1608+12del XP_011536915.1:n.1608+6_1608+12del
NM_001330437.1:c.1611+6_1611+12del NP_001317366.1:n.1611+6_1611+12del
NM_002834.4:c.1599+6_1599+12del NP_002825.3:n.1599+6_1599+12del
XM_011538613.2:c.1608+6_1608+12del XP_011536915.1:n.1608+6_1608+12del
XM_017019722.1:c.1596+6_1596+12del XP_016875211.1:n.1596+6_1596+12del
NM_001330437.2:c.1611+6_1611+12del NP_001317366.1:n.1611+6_1611+12del
NM_001374625.1:c.1596+6_1596+12del NP_001361554.1:n.1596+6_1596+12del
NM_002834.5:c.1599+6_1599+12del MANE Select NP_002825.3:n.1599+6_1599+12del