Canonical Allele Identifier: CA683697770

Gene: PTPN11

Linked Data

• dbSNP Id: rs1488629630
• MyVariant Identifiers: chr12:g.112945043_112945044del (hg19) ; chr12:g.112507239_112507240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507240_112507241del , CM000674.2:g.112507240_112507241del	GRCh38
NC_000012.11:g.112945044_112945045del , CM000674.1:g.112945044_112945045del	GRCh37
NC_000012.10:g.111429427_111429428del	NCBI36
NG_007459.1:g.93509_93510del , LRG_614:g.93509_93510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.*1391_*1392del	ENSP00000491593.2:n.*1391_*1392del
ENST00000685487.1:c.*2432_*2433del	ENSP00000508503.1:n.*2432_*2433del
ENST00000687120.1:n.5051_5052del
ENST00000687906.1:c.*1448_*1449del	ENSP00000509536.1:n.*1448_*1449del
ENST00000688597.1:c.*1448_*1449del	ENSP00000510628.1:n.*1448_*1449del
ENST00000688701.1:n.2474_2475del
ENST00000690210.1:c.*1448_*1449del	ENSP00000509272.1:n.*1448_*1449del
ENST00000690472.1:n.2439_2440del
ENST00000692624.1:c.*1776_*1777del	ENSP00000508953.1:n.*1776_*1777del
ENST00000351677.7:c.*1448_*1449del MANE Select	ENSP00000340944.3:n.*1448_*1449del
ENST00000351677.6:c.*1448_*1449del	ENSP00000340944.2:n.*1448_*1449del
NM_002834.3:c.*1448_*1449del , LRG_614t1:c.*1448_*1449del	NP_002825.3:n.*1448_*1449del
XM_006719526.1:c.*1448_*1449del	XP_006719589.1:n.*1448_*1449del
XM_006719527.1:c.*1448_*1449del	XP_006719590.1:n.*1448_*1449del
XM_011538613.1:c.*1448_*1449del	XP_011536915.1:n.*1448_*1449del
NM_001330437.1:c.*1448_*1449del	NP_001317366.1:n.*1448_*1449del
NM_002834.4:c.*1448_*1449del	NP_002825.3:n.*1448_*1449del
XM_011538613.2:c.*1448_*1449del	XP_011536915.1:n.*1448_*1449del
XM_017019722.1:c.*1448_*1449del	XP_016875211.1:n.*1448_*1449del
NM_001330437.2:c.*1448_*1449del	NP_001317366.1:n.*1448_*1449del
NM_001374625.1:c.*1448_*1449del	NP_001361554.1:n.*1448_*1449del
NM_002834.5:c.*1448_*1449del MANE Select	NP_002825.3:n.*1448_*1449del