Canonical Allele Identifier: CA2621026798

Gene: PTPN11

Linked Data

• gnomAD v4: 12-112489292-GAAAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489297_112489300del , CM000674.2:g.112489297_112489300del	GRCh38
NC_000012.11:g.112927101_112927104del , CM000674.1:g.112927101_112927104del	GRCh37
NC_000012.10:g.111411484_111411487del	NCBI36
NG_007459.1:g.75566_75569del , LRG_614:g.75566_75569del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+122_1599+125del	ENSP00000491593.2:n.1599+122_1599+125del
ENST00000685487.1:c.*110_*113del	ENSP00000508503.1:n.*110_*113del
ENST00000687624.1:n.386_389del
ENST00000687906.1:c.1485+122_1485+125del	ENSP00000509536.1:n.1485+122_1485+125del
ENST00000688597.1:c.1224+7092_1224+7095del	ENSP00000510628.1:n.1224+7092_1224+7095del
ENST00000688701.1:n.843+122_843+125del
ENST00000690210.1:c.1599+122_1599+125del	ENSP00000509272.1:n.1599+122_1599+125del
ENST00000690472.1:n.808+122_808+125del
ENST00000692624.1:c.*145+122_*145+125del	ENSP00000508953.1:n.*145+122_*145+125del
ENST00000351677.7:c.1599+122_1599+125del MANE Select	ENSP00000340944.3:n.1599+122_1599+125del
ENST00000351677.6:c.1599+122_1599+125del	ENSP00000340944.2:n.1599+122_1599+125del
ENST00000635625.1:c.1611+122_1611+125del	ENSP00000489597.1:n.1611+122_1611+125del
NM_002834.3:c.1599+122_1599+125del , LRG_614t1:c.1599+122_1599+125del	NP_002825.3:n.1599+122_1599+125del
XM_006719526.1:c.1611+122_1611+125del	XP_006719589.1:n.1611+122_1611+125del
XM_006719527.1:c.1497+122_1497+125del	XP_006719590.1:n.1497+122_1497+125del
XM_011538613.1:c.1608+122_1608+125del	XP_011536915.1:n.1608+122_1608+125del
NM_001330437.1:c.1611+122_1611+125del	NP_001317366.1:n.1611+122_1611+125del
NM_002834.4:c.1599+122_1599+125del	NP_002825.3:n.1599+122_1599+125del
XM_011538613.2:c.1608+122_1608+125del	XP_011536915.1:n.1608+122_1608+125del
XM_017019722.1:c.1596+122_1596+125del	XP_016875211.1:n.1596+122_1596+125del
NM_001330437.2:c.1611+122_1611+125del	NP_001317366.1:n.1611+122_1611+125del
NM_001374625.1:c.1596+122_1596+125del	NP_001361554.1:n.1596+122_1596+125del
NM_002834.5:c.1599+122_1599+125del MANE Select	NP_002825.3:n.1599+122_1599+125del