Canonical Allele Identifier: CA2739277320
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2814413
ClinVar RCV Id: RCV003655707

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450364_112450365delinsAT , CM000674.2:g.112450364_112450365delinsAT GRCh38
NC_000012.11:g.112888168_112888169delinsAT , CM000674.1:g.112888168_112888169delinsAT GRCh37
NC_000012.10:g.111372551_111372552delinsAT NCBI36
NG_007459.1:g.36633_36634delinsAT , LRG_614:g.36633_36634delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000639857.2:c.184_185delinsAT ENSP00000491593.2:p.Tyr62Ile
ENST00000685487.1:c.184_185delinsAT ENSP00000508503.1:p.Tyr62Ile
ENST00000687906.1:c.184_185delinsAT ENSP00000509536.1:p.Tyr62Ile
ENST00000688597.1:c.184_185delinsAT ENSP00000510628.1:p.Tyr62Ile
ENST00000690210.1:c.184_185delinsAT ENSP00000509272.1:p.Tyr62Ile
ENST00000692624.1:c.184_185delinsAT ENSP00000508953.1:p.Tyr62Ile
ENST00000351677.7:c.184_185delinsAT MANE Select ENSP00000340944.3:p.Tyr62Ile
ENST00000639857.1:c.184_185delinsAT ENSP00000491593.1:p.Tyr62Ile
ENST00000351677.6:c.184_185delinsAT ENSP00000340944.2:p.Tyr62Ile
ENST00000392597.5:c.184_185delinsAT ENSP00000376376.1:p.Tyr62Ile
ENST00000635625.1:c.184_185delinsAT ENSP00000489597.1:p.Tyr62Ile
NM_002834.3:c.184_185delinsAT , LRG_614t1:c.184_185delinsAT NP_002825.3:p.Tyr62Ile
NM_080601.1:c.184_185delinsAT NP_542168.1:p.Tyr62Ile
XM_006719526.1:c.184_185delinsAT XP_006719589.1:p.Tyr62Ile
XM_006719527.1:c.184_185delinsAT XP_006719590.1:p.Tyr62Ile
XM_011538613.1:c.181_182delinsAT XP_011536915.1:p.Tyr61Ile
NM_001330437.1:c.184_185delinsAT NP_001317366.1:p.Tyr62Ile
NM_002834.4:c.184_185delinsAT NP_002825.3:p.Tyr62Ile
NM_080601.2:c.184_185delinsAT NP_542168.1:p.Tyr62Ile
XM_011538613.2:c.181_182delinsAT XP_011536915.1:p.Tyr61Ile
XM_017019722.1:c.181_182delinsAT XP_016875211.1:p.Tyr61Ile
NM_001330437.2:c.184_185delinsAT NP_001317366.1:p.Tyr62Ile
NM_001374625.1:c.181_182delinsAT NP_001361554.1:p.Tyr61Ile
NM_002834.5:c.184_185delinsAT MANE Select NP_002825.3:p.Tyr62Ile
NM_080601.3:c.184_185delinsAT NP_542168.1:p.Tyr62Ile