Canonical Allele Identifier: CA16042833
Gene: PTPN11 HGNC NCBI

Linked Data

ClinVar Variation Id: 372703
ClinVar RCV Id: RCV000412983
dbSNP Id: rs1057517935

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450360_112450361delinsAA , CM000674.2:g.112450360_112450361delinsAA GRCh38
NC_000012.11:g.112888164_112888165delinsAA , CM000674.1:g.112888164_112888165delinsAA GRCh37
NC_000012.10:g.111372547_111372548delinsAA NCBI36
NG_007459.1:g.36629_36630delinsAA , LRG_614:g.36629_36630delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.180_181delinsAA ENSP00000491593.2:p.Asp61Asn
ENST00000685487.1:c.180_181delinsAA ENSP00000508503.1:p.Asp61Asn
ENST00000687906.1:c.180_181delinsAA ENSP00000509536.1:p.Asp61Asn
ENST00000688597.1:c.180_181delinsAA ENSP00000510628.1:p.Asp61Asn
ENST00000690210.1:c.180_181delinsAA ENSP00000509272.1:p.Asp61Asn
ENST00000692624.1:c.180_181delinsAA ENSP00000508953.1:p.Asp61Asn
ENST00000351677.7:c.180_181delinsAA MANE Select ENSP00000340944.3:p.Asp61Asn
ENST00000639857.1:c.180_181delinsAA ENSP00000491593.1:p.Asp61Asn
ENST00000351677.6:c.180_181delinsAA ENSP00000340944.2:p.Asp61Asn
ENST00000392597.5:c.180_181delinsAA ENSP00000376376.1:p.Asp61Asn
ENST00000635625.1:c.180_181delinsAA ENSP00000489597.1:p.Asp61Asn
NM_002834.3:c.180_181delinsAA , LRG_614t1:c.180_181delinsAA NP_002825.3:p.Asp61Asn
NM_080601.1:c.180_181delinsAA NP_542168.1:p.Asp61Asn
XM_006719526.1:c.180_181delinsAA XP_006719589.1:p.Asp61Asn
XM_006719527.1:c.180_181delinsAA XP_006719590.1:p.Asp61Asn
XM_011538613.1:c.177_178delinsAA XP_011536915.1:p.Asp60Asn
NM_001330437.1:c.180_181delinsAA NP_001317366.1:p.Asp61Asn
NM_002834.4:c.180_181delinsAA NP_002825.3:p.Asp61Asn
NM_080601.2:c.180_181delinsAA NP_542168.1:p.Asp61Asn
XM_011538613.2:c.177_178delinsAA XP_011536915.1:p.Asp60Asn
XM_017019722.1:c.177_178delinsAA XP_016875211.1:p.Asp60Asn
NM_001330437.2:c.180_181delinsAA NP_001317366.1:p.Asp61Asn
NM_001374625.1:c.177_178delinsAA NP_001361554.1:p.Asp60Asn
NM_002834.5:c.180_181delinsAA MANE Select NP_002825.3:p.Asp61Asn
NM_080601.3:c.180_181delinsAA NP_542168.1:p.Asp61Asn