Canonical Allele Identifier: CA3249307511
Community Standard Title: NM_002834.5(PTPN11):c.771_772delinsAA (p.Glu258Lys)
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112472958_112472959delinsAA , CM000674.2:g.112472958_112472959delinsAA GRCh38
NC_000012.11:g.112910762_112910763delinsAA , CM000674.1:g.112910762_112910763delinsAA GRCh37
NC_000012.10:g.111395145_111395146delinsAA NCBI36
NG_007459.1:g.59227_59228delinsAA , LRG_614:g.59227_59228delinsAA

Transcript Alleles

HGVS Amino-acid Change
NM_002834.5:c.771_772delinsAA MANE Select NP_002825.3:p.Glu258Lys
ENST00000351677.7:c.771_772delinsAA MANE Select ENSP00000340944.3:p.Glu258Lys
NM_001330437.1:c.771_772delinsAA NP_001317366.1:p.Glu258Lys
NM_001330437.2:c.771_772delinsAA NP_001317366.1:p.Glu258Lys
NM_001374625.1:c.768_769delinsAA NP_001361554.1:p.Glu257Lys
NM_002834.3:c.771_772delinsAA , LRG_614t1:c.771_772delinsAA NP_002825.3:p.Glu258Lys
NM_002834.4:c.771_772delinsAA NP_002825.3:p.Glu258Lys
NM_080601.1:c.771_772delinsAA NP_542168.1:p.Glu258Lys
NM_080601.2:c.771_772delinsAA NP_542168.1:p.Glu258Lys
NM_080601.3:c.771_772delinsAA NP_542168.1:p.Glu258Lys
ENST00000351677.6:c.771_772delinsAA ENSP00000340944.2:p.Glu258Lys
ENST00000392597.5:c.771_772delinsAA ENSP00000376376.1:p.Glu258Lys
ENST00000635625.1:c.771_772delinsAA ENSP00000489597.1:p.Glu258Lys
ENST00000639857.2:c.771_772delinsAA ENSP00000491593.2:p.Glu258Lys
ENST00000685487.1:c.771_772delinsAA ENSP00000508503.1:p.Glu258Lys
ENST00000687906.1:c.657_658delinsAA ENSP00000509536.1:p.Glu220Lys
ENST00000688597.1:c.771_772delinsAA ENSP00000510628.1:p.Glu258Lys
ENST00000690210.1:c.771_772delinsAA ENSP00000509272.1:p.Glu258Lys
ENST00000692624.1:c.771_772delinsAA ENSP00000508953.1:p.Glu258Lys
XM_006719526.1:c.771_772delinsAA XP_006719589.1:p.Glu258Lys
XM_006719527.1:c.657_658delinsAA XP_006719590.1:p.Glu220Lys
XM_011538613.1:c.768_769delinsAA XP_011536915.1:p.Glu257Lys
XM_011538613.2:c.768_769delinsAA XP_011536915.1:p.Glu257Lys
XM_017019722.1:c.768_769delinsAA XP_016875211.1:p.Glu257Lys