Canonical Allele Identifier: CA2797483090
Gene: PTPN11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112450626dup , CM000674.2:g.112450626dup GRCh38
NC_000012.11:g.112888430dup , CM000674.1:g.112888430dup GRCh37
NC_000012.10:g.111372813dup NCBI36
NG_007459.1:g.36895dup , LRG_614:g.36895dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000639857.2:c.332+114dup ENSP00000491593.2:n.332+114dup
ENST00000685487.1:c.332+114dup ENSP00000508503.1:n.332+114dup
ENST00000687906.1:c.332+114dup ENSP00000509536.1:n.332+114dup
ENST00000688597.1:c.332+114dup ENSP00000510628.1:n.332+114dup
ENST00000690210.1:c.332+114dup ENSP00000509272.1:n.332+114dup
ENST00000692624.1:c.332+114dup ENSP00000508953.1:n.332+114dup
ENST00000351677.7:c.332+114dup MANE Select ENSP00000340944.3:n.332+114dup
ENST00000639857.1:c.332+114dup ENSP00000491593.1:n.332+114dup
ENST00000351677.6:c.332+114dup ENSP00000340944.2:n.332+114dup
ENST00000392597.5:c.332+114dup ENSP00000376376.1:n.332+114dup
ENST00000635625.1:c.332+114dup ENSP00000489597.1:n.332+114dup
NM_002834.3:c.332+114dup , LRG_614t1:c.332+114dup NP_002825.3:n.332+114dup
NM_080601.1:c.332+114dup NP_542168.1:n.332+114dup
XM_006719526.1:c.332+114dup XP_006719589.1:n.332+114dup
XM_006719527.1:c.332+114dup XP_006719590.1:n.332+114dup
XM_011538613.1:c.329+114dup XP_011536915.1:n.329+114dup
NM_001330437.1:c.332+114dup NP_001317366.1:n.332+114dup
NM_002834.4:c.332+114dup NP_002825.3:n.332+114dup
NM_080601.2:c.332+114dup NP_542168.1:n.332+114dup
XM_011538613.2:c.329+114dup XP_011536915.1:n.329+114dup
XM_017019722.1:c.329+114dup XP_016875211.1:n.329+114dup
NM_001330437.2:c.332+114dup NP_001317366.1:n.332+114dup
NM_001374625.1:c.329+114dup NP_001361554.1:n.329+114dup
NM_002834.5:c.332+114dup MANE Select NP_002825.3:n.332+114dup
NM_080601.3:c.332+114dup NP_542168.1:n.332+114dup