Canonical Allele Identifier: CA2621026815

Gene: PTPN11

Linked Data

• gnomAD v4: 12-112489312-AGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489313_112489315del , CM000674.2:g.112489313_112489315del	GRCh38
NC_000012.11:g.112927117_112927119del , CM000674.1:g.112927117_112927119del	GRCh37
NC_000012.10:g.111411500_111411502del	NCBI36
NG_007459.1:g.75582_75584del , LRG_614:g.75582_75584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+138_1599+140del	ENSP00000491593.2:n.1599+138_1599+140del
ENST00000685487.1:c.*126_*128del	ENSP00000508503.1:n.*126_*128del
ENST00000687624.1:n.402_404del
ENST00000687906.1:c.1485+138_1485+140del	ENSP00000509536.1:n.1485+138_1485+140del
ENST00000688597.1:c.1224+7108_1224+7110del	ENSP00000510628.1:n.1224+7108_1224+7110del
ENST00000688701.1:n.843+138_843+140del
ENST00000690210.1:c.1599+138_1599+140del	ENSP00000509272.1:n.1599+138_1599+140del
ENST00000690472.1:n.808+138_808+140del
ENST00000692624.1:c.*145+138_*145+140del	ENSP00000508953.1:n.*145+138_*145+140del
ENST00000351677.7:c.1599+138_1599+140del MANE Select	ENSP00000340944.3:n.1599+138_1599+140del
ENST00000351677.6:c.1599+138_1599+140del	ENSP00000340944.2:n.1599+138_1599+140del
ENST00000635625.1:c.1611+138_1611+140del	ENSP00000489597.1:n.1611+138_1611+140del
NM_002834.3:c.1599+138_1599+140del , LRG_614t1:c.1599+138_1599+140del	NP_002825.3:n.1599+138_1599+140del
XM_006719526.1:c.1611+138_1611+140del	XP_006719589.1:n.1611+138_1611+140del
XM_006719527.1:c.1497+138_1497+140del	XP_006719590.1:n.1497+138_1497+140del
XM_011538613.1:c.1608+138_1608+140del	XP_011536915.1:n.1608+138_1608+140del
NM_001330437.1:c.1611+138_1611+140del	NP_001317366.1:n.1611+138_1611+140del
NM_002834.4:c.1599+138_1599+140del	NP_002825.3:n.1599+138_1599+140del
XM_011538613.2:c.1608+138_1608+140del	XP_011536915.1:n.1608+138_1608+140del
XM_017019722.1:c.1596+138_1596+140del	XP_016875211.1:n.1596+138_1596+140del
NM_001330437.2:c.1611+138_1611+140del	NP_001317366.1:n.1611+138_1611+140del
NM_001374625.1:c.1596+138_1596+140del	NP_001361554.1:n.1596+138_1596+140del
NM_002834.5:c.1599+138_1599+140del MANE Select	NP_002825.3:n.1599+138_1599+140del