Canonical Allele Identifier: CA2573147995

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 1679347
• ClinVar RCV Id: RCV002226944
• dbSNP Id: rs2135902166

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477993del , CM000674.2:g.112477993del	GRCh38
NC_000012.11:g.112915797del , CM000674.1:g.112915797del	GRCh37
NC_000012.10:g.111400180del	NCBI36
NG_007459.1:g.64262del , LRG_614:g.64262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1070del	ENSP00000491593.2:p.Thr357ArgfsTer21
ENST00000685487.1:c.1070del	ENSP00000508503.1:p.Thr357ArgfsTer21
ENST00000687906.1:c.956del	ENSP00000509536.1:p.Thr319ArgfsTer21
ENST00000688597.1:c.1070del	ENSP00000510628.1:p.Thr357ArgfsTer21
ENST00000690210.1:c.1070del	ENSP00000509272.1:p.Thr357ArgfsTer21
ENST00000692624.1:c.1070del	ENSP00000508953.1:p.Thr357ArgfsTer21
ENST00000351677.7:c.1070del MANE Select	ENSP00000340944.3:p.Thr357ArgfsTer21
ENST00000351677.6:c.1070del	ENSP00000340944.2:p.Thr357ArgfsTer21
ENST00000392597.5:c.1070del	ENSP00000376376.1:p.Thr357ArgfsTer21
ENST00000635625.1:c.1070del	ENSP00000489597.1:p.Thr357ArgfsTer21
ENST00000635652.1:c.62del	ENSP00000489541.1:p.Thr21ArgfsTer21
NM_002834.3:c.1070del , LRG_614t1:c.1070del	NP_002825.3:p.Thr357ArgfsTer21
NM_080601.1:c.1070del	NP_542168.1:p.Thr357ArgfsTer21
XM_006719526.1:c.1070del	XP_006719589.1:p.Thr357ArgfsTer21
XM_006719527.1:c.956del	XP_006719590.1:p.Thr319ArgfsTer21
XM_011538613.1:c.1067del	XP_011536915.1:p.Thr356ArgfsTer21
NM_001330437.1:c.1070del	NP_001317366.1:p.Thr357ArgfsTer21
NM_002834.4:c.1070del	NP_002825.3:p.Thr357ArgfsTer21
NM_080601.2:c.1070del	NP_542168.1:p.Thr357ArgfsTer21
XM_011538613.2:c.1067del	XP_011536915.1:p.Thr356ArgfsTer21
XM_017019722.1:c.1067del	XP_016875211.1:p.Thr356ArgfsTer21
NM_001330437.2:c.1070del	NP_001317366.1:p.Thr357ArgfsTer21
NM_001374625.1:c.1067del	NP_001361554.1:p.Thr356ArgfsTer21
NM_002834.5:c.1070del MANE Select	NP_002825.3:p.Thr357ArgfsTer21
NM_080601.3:c.1070del	NP_542168.1:p.Thr357ArgfsTer21