Canonical Allele Identifier: CA891844000
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 571101
ClinVar RCV Id: RCV000692146
dbSNP Id: rs1566186833

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112489082_112489083delinsCC , CM000674.2:g.112489082_112489083delinsCC GRCh38
NC_000012.11:g.112926886_112926887delinsCC , CM000674.1:g.112926886_112926887delinsCC GRCh37
NC_000012.10:g.111411269_111411270delinsCC NCBI36
NG_007459.1:g.75351_75352delinsCC , LRG_614:g.75351_75352delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.1506_1507delinsCC ENSP00000491593.2:p.Gly503Arg
ENST00000685487.1:c.1506_1507delinsCC ENSP00000508503.1:p.Gly503Arg
ENST00000687624.1:n.171_172delinsCC
ENST00000687906.1:c.1392_1393delinsCC ENSP00000509536.1:p.Gly465Arg
ENST00000688597.1:c.1224+6877_1224+6878delinsCC ENSP00000510628.1:n.1224+6877_1224+6878delinsCC
ENST00000688701.1:n.750_751delinsCC
ENST00000690210.1:c.1506_1507delinsCC ENSP00000509272.1:p.Gly503Arg
ENST00000690472.1:n.715_716delinsCC
ENST00000692624.1:c.*52_*53delinsCC ENSP00000508953.1:n.*52_*53delinsCC
ENST00000351677.7:c.1506_1507delinsCC MANE Select ENSP00000340944.3:p.Gly503Arg
ENST00000351677.6:c.1506_1507delinsCC ENSP00000340944.2:p.Gly503Arg
ENST00000635625.1:c.1518_1519delinsCC ENSP00000489597.1:p.Gly507Arg
ENST00000635652.1:c.519_520delinsCC ENSP00000489541.1:p.Gly174Arg
NM_002834.3:c.1506_1507delinsCC , LRG_614t1:c.1506_1507delinsCC NP_002825.3:p.Gly503Arg
XM_006719526.1:c.1518_1519delinsCC XP_006719589.1:p.Gly507Arg
XM_006719527.1:c.1404_1405delinsCC XP_006719590.1:p.Gly469Arg
XM_011538613.1:c.1515_1516delinsCC XP_011536915.1:p.Gly506Arg
NM_001330437.1:c.1518_1519delinsCC NP_001317366.1:p.Gly507Arg
NM_002834.4:c.1506_1507delinsCC NP_002825.3:p.Gly503Arg
XM_011538613.2:c.1515_1516delinsCC XP_011536915.1:p.Gly506Arg
XM_017019722.1:c.1503_1504delinsCC XP_016875211.1:p.Gly502Arg
NM_001330437.2:c.1518_1519delinsCC NP_001317366.1:p.Gly507Arg
NM_001374625.1:c.1503_1504delinsCC NP_001361554.1:p.Gly502Arg
NM_002834.5:c.1506_1507delinsCC MANE Select NP_002825.3:p.Gly503Arg