Canonical Allele Identifier: CA683703522

Gene: PTPN11

Linked Data

• dbSNP Id: rs1288300679
• gnomAD v3: 12-112488995-CT-C
• gnomAD v4: 12-112488995-CT-C
• MyVariant Identifiers: chr12:g.112926800del (hg19) ; chr12:g.112488996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112488998del , CM000674.2:g.112488998del	GRCh38
NC_000012.11:g.112926802del , CM000674.1:g.112926802del	GRCh37
NC_000012.10:g.111411185del	NCBI36
NG_007459.1:g.75267del , LRG_614:g.75267del

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.1448-26del	ENSP00000491593.2:n.1448-26del
ENST00000685487.1:c.1448-26del	ENSP00000508503.1:n.1448-26del
ENST00000687624.1:n.113-26del
ENST00000687906.1:c.1334-26del	ENSP00000509536.1:n.1334-26del
ENST00000688597.1:c.1224+6793del	ENSP00000510628.1:n.1224+6793del
ENST00000688701.1:n.692-26del
ENST00000690210.1:c.1448-26del	ENSP00000509272.1:n.1448-26del
ENST00000690472.1:n.657-26del
ENST00000692624.1:c.1380-26del	ENSP00000508953.1:n.1380-26del
ENST00000351677.7:c.1448-26del MANE Select	ENSP00000340944.3:n.1448-26del
ENST00000351677.6:c.1448-26del	ENSP00000340944.2:n.1448-26del
ENST00000635625.1:c.1460-26del	ENSP00000489597.1:n.1460-26del
ENST00000635652.1:c.461-26del	ENSP00000489541.1:n.461-26del
NM_002834.3:c.1448-26del , LRG_614t1:c.1448-26del	NP_002825.3:n.1448-26del
XM_006719526.1:c.1460-26del	XP_006719589.1:n.1460-26del
XM_006719527.1:c.1346-26del	XP_006719590.1:n.1346-26del
XM_011538613.1:c.1457-26del	XP_011536915.1:n.1457-26del
NM_001330437.1:c.1460-26del	NP_001317366.1:n.1460-26del
NM_002834.4:c.1448-26del	NP_002825.3:n.1448-26del
XM_011538613.2:c.1457-26del	XP_011536915.1:n.1457-26del
XM_017019722.1:c.1445-26del	XP_016875211.1:n.1445-26del
NM_001330437.2:c.1460-26del	NP_001317366.1:n.1460-26del
NM_001374625.1:c.1445-26del	NP_001361554.1:n.1445-26del
NM_002834.5:c.1448-26del MANE Select	NP_002825.3:n.1448-26del