Canonical Allele Identifier: CA919176248

Gene: PTPN11

Linked Data

• ClinVar Variation Id: 2913788
• ClinVar RCV Id: RCV003654853
• dbSNP Id: rs1592847505
• gnomAD v4: 12-112477843-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112477845del , CM000674.2:g.112477845del	GRCh38
NC_000012.11:g.112915649del , CM000674.1:g.112915649del	GRCh37
NC_000012.10:g.111400032del	NCBI36
NG_007459.1:g.64114del , LRG_614:g.64114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.934-12del	ENSP00000491593.2:n.934-12del
ENST00000685487.1:c.934-12del	ENSP00000508503.1:n.934-12del
ENST00000687906.1:c.820-12del	ENSP00000509536.1:n.820-12del
ENST00000688597.1:c.934-12del	ENSP00000510628.1:n.934-12del
ENST00000690210.1:c.934-12del	ENSP00000509272.1:n.934-12del
ENST00000692624.1:c.934-12del	ENSP00000508953.1:n.934-12del
ENST00000351677.7:c.934-12del MANE Select	ENSP00000340944.3:n.934-12del
ENST00000351677.6:c.934-12del	ENSP00000340944.2:n.934-12del
ENST00000392597.5:c.934-12del	ENSP00000376376.1:n.934-12del
ENST00000635625.1:c.934-12del	ENSP00000489597.1:n.934-12del
NM_002834.3:c.934-12del , LRG_614t1:c.934-12del	NP_002825.3:n.934-12del
NM_080601.1:c.934-12del	NP_542168.1:n.934-12del
XM_006719526.1:c.934-12del	XP_006719589.1:n.934-12del
XM_006719527.1:c.820-12del	XP_006719590.1:n.820-12del
XM_011538613.1:c.931-12del	XP_011536915.1:n.931-12del
NM_001330437.1:c.934-12del	NP_001317366.1:n.934-12del
NM_002834.4:c.934-12del	NP_002825.3:n.934-12del
NM_080601.2:c.934-12del	NP_542168.1:n.934-12del
XM_011538613.2:c.931-12del	XP_011536915.1:n.931-12del
XM_017019722.1:c.931-12del	XP_016875211.1:n.931-12del
NM_001330437.2:c.934-12del	NP_001317366.1:n.934-12del
NM_001374625.1:c.931-12del	NP_001361554.1:n.931-12del
NM_002834.5:c.934-12del MANE Select	NP_002825.3:n.934-12del
NM_080601.3:c.934-12del	NP_542168.1:n.934-12del