Canonical Allele Identifier: CA2575299211

Gene: PTPN11

Linked Data

• gnomAD v4: 12-112489275-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489278del , CM000674.2:g.112489278del	GRCh38
NC_000012.11:g.112927082del , CM000674.1:g.112927082del	GRCh37
NC_000012.10:g.111411465del	NCBI36
NG_007459.1:g.75547del , LRG_614:g.75547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+103del	ENSP00000491593.2:n.1599+103del
ENST00000685487.1:c.*91del	ENSP00000508503.1:n.*91del
ENST00000687624.1:n.367del
ENST00000687906.1:c.1485+103del	ENSP00000509536.1:n.1485+103del
ENST00000688597.1:c.1224+7073del	ENSP00000510628.1:n.1224+7073del
ENST00000688701.1:n.843+103del
ENST00000690210.1:c.1599+103del	ENSP00000509272.1:n.1599+103del
ENST00000690472.1:n.808+103del
ENST00000692624.1:c.*145+103del	ENSP00000508953.1:n.*145+103del
ENST00000351677.7:c.1599+103del MANE Select	ENSP00000340944.3:n.1599+103del
ENST00000351677.6:c.1599+103del	ENSP00000340944.2:n.1599+103del
ENST00000635625.1:c.1611+103del	ENSP00000489597.1:n.1611+103del
NM_002834.3:c.1599+103del , LRG_614t1:c.1599+103del	NP_002825.3:n.1599+103del
XM_006719526.1:c.1611+103del	XP_006719589.1:n.1611+103del
XM_006719527.1:c.1497+103del	XP_006719590.1:n.1497+103del
XM_011538613.1:c.1608+103del	XP_011536915.1:n.1608+103del
NM_001330437.1:c.1611+103del	NP_001317366.1:n.1611+103del
NM_002834.4:c.1599+103del	NP_002825.3:n.1599+103del
XM_011538613.2:c.1608+103del	XP_011536915.1:n.1608+103del
XM_017019722.1:c.1596+103del	XP_016875211.1:n.1596+103del
NM_001330437.2:c.1611+103del	NP_001317366.1:n.1611+103del
NM_001374625.1:c.1596+103del	NP_001361554.1:n.1596+103del
NM_002834.5:c.1599+103del MANE Select	NP_002825.3:n.1599+103del