Canonical Allele Identifier: CA16042834
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 372674
ClinVar RCV Id: RCV000413931
dbSNP Id: rs1057517917

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450368_112450369delinsGC , CM000674.2:g.112450368_112450369delinsGC GRCh38
NC_000012.11:g.112888172_112888173delinsGC , CM000674.1:g.112888172_112888173delinsGC GRCh37
NC_000012.10:g.111372555_111372556delinsGC NCBI36
NG_007459.1:g.36637_36638delinsGC , LRG_614:g.36637_36638delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.188_189delinsGC ENSP00000491593.2:p.Tyr63Cys
ENST00000685487.1:c.188_189delinsGC ENSP00000508503.1:p.Tyr63Cys
ENST00000687906.1:c.188_189delinsGC ENSP00000509536.1:p.Tyr63Cys
ENST00000688597.1:c.188_189delinsGC ENSP00000510628.1:p.Tyr63Cys
ENST00000690210.1:c.188_189delinsGC ENSP00000509272.1:p.Tyr63Cys
ENST00000692624.1:c.188_189delinsGC ENSP00000508953.1:p.Tyr63Cys
ENST00000351677.7:c.188_189delinsGC MANE Select ENSP00000340944.3:p.Tyr63Cys
ENST00000639857.1:c.188_189delinsGC ENSP00000491593.1:p.Tyr63Cys
ENST00000351677.6:c.188_189delinsGC ENSP00000340944.2:p.Tyr63Cys
ENST00000392597.5:c.188_189delinsGC ENSP00000376376.1:p.Tyr63Cys
ENST00000635625.1:c.188_189delinsGC ENSP00000489597.1:p.Tyr63Cys
NM_002834.3:c.188_189delinsGC , LRG_614t1:c.188_189delinsGC NP_002825.3:p.Tyr63Cys
NM_080601.1:c.188_189delinsGC NP_542168.1:p.Tyr63Cys
XM_006719526.1:c.188_189delinsGC XP_006719589.1:p.Tyr63Cys
XM_006719527.1:c.188_189delinsGC XP_006719590.1:p.Tyr63Cys
XM_011538613.1:c.185_186delinsGC XP_011536915.1:p.Tyr62Cys
NM_001330437.1:c.188_189delinsGC NP_001317366.1:p.Tyr63Cys
NM_002834.4:c.188_189delinsGC NP_002825.3:p.Tyr63Cys
NM_080601.2:c.188_189delinsGC NP_542168.1:p.Tyr63Cys
XM_011538613.2:c.185_186delinsGC XP_011536915.1:p.Tyr62Cys
XM_017019722.1:c.185_186delinsGC XP_016875211.1:p.Tyr62Cys
NM_001330437.2:c.188_189delinsGC NP_001317366.1:p.Tyr63Cys
NM_001374625.1:c.185_186delinsGC NP_001361554.1:p.Tyr62Cys
NM_002834.5:c.188_189delinsGC MANE Select NP_002825.3:p.Tyr63Cys
NM_080601.3:c.188_189delinsGC NP_542168.1:p.Tyr63Cys