Canonical Allele Identifier: CA607604949

Gene: PTPN11

Linked Data

• dbSNP Id: rs1443385704
• gnomAD v2: 12-112891063-GGTA-G
• gnomAD v4: 12-112453259-GGTA-G
• MyVariant Identifiers: chr12:g.112891064_112891066del (hg19) ; chr12:g.112453260_112453262del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112453262_112453264del , CM000674.2:g.112453262_112453264del	GRCh38
NC_000012.11:g.112891066_112891068del , CM000674.1:g.112891066_112891068del	GRCh37
NC_000012.10:g.111375449_111375451del	NCBI36
NG_007459.1:g.39531_39533del , LRG_614:g.39531_39533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.400_402del	ENSP00000491593.2:p.Ser134del
ENST00000685487.1:c.400_402del	ENSP00000508503.1:p.Ser134del
ENST00000687906.1:c.400_402del	ENSP00000509536.1:p.Ser134del
ENST00000688597.1:c.400_402del	ENSP00000510628.1:p.Ser134del
ENST00000690210.1:c.400_402del	ENSP00000509272.1:p.Ser134del
ENST00000692624.1:c.400_402del	ENSP00000508953.1:p.Ser134del
ENST00000351677.7:c.400_402del MANE Select	ENSP00000340944.3:p.Ser134del
ENST00000639857.1:c.400_402del	ENSP00000491593.1:p.Ser134del
ENST00000351677.6:c.400_402del	ENSP00000340944.2:p.Ser134del
ENST00000392597.5:c.400_402del	ENSP00000376376.1:p.Ser134del
ENST00000635625.1:c.400_402del	ENSP00000489597.1:p.Ser134del
NM_002834.3:c.400_402del , LRG_614t1:c.400_402del	NP_002825.3:p.Ser134del
NM_080601.1:c.400_402del	NP_542168.1:p.Ser134del
XM_006719526.1:c.400_402del	XP_006719589.1:p.Ser134del
XM_006719527.1:c.400_402del	XP_006719590.1:p.Ser134del
XM_011538613.1:c.397_399del	XP_011536915.1:p.Ser133del
NM_001330437.1:c.400_402del	NP_001317366.1:p.Ser134del
NM_002834.4:c.400_402del	NP_002825.3:p.Ser134del
NM_080601.2:c.400_402del	NP_542168.1:p.Ser134del
XM_011538613.2:c.397_399del	XP_011536915.1:p.Ser133del
XM_017019722.1:c.397_399del	XP_016875211.1:p.Ser133del
NM_001330437.2:c.400_402del	NP_001317366.1:p.Ser134del
NM_001374625.1:c.397_399del	NP_001361554.1:p.Ser133del
NM_002834.5:c.400_402del MANE Select	NP_002825.3:p.Ser134del
NM_080601.3:c.400_402del	NP_542168.1:p.Ser134del