Canonical Allele Identifier: CA645586232

Gene: PTPN11

Linked Data - Expert Curation

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489105_112489106delinsTT , CM000674.2:g.112489105_112489106delinsTT	GRCh38
NC_000012.11:g.112926909_112926910delinsTT , CM000674.1:g.112926909_112926910delinsTT	GRCh37
NC_000012.10:g.111411292_111411293delinsTT	NCBI36
NG_007459.1:g.75374_75375delinsTT , LRG_614:g.75374_75375delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1529_1530delinsTT	ENSP00000491593.2:p.Gln510Leu
ENST00000685487.1:c.1529_1530delinsTT	ENSP00000508503.1:p.Gln510Leu
ENST00000687624.1:n.194_195delinsTT
ENST00000687906.1:c.1415_1416delinsTT	ENSP00000509536.1:p.Gln472Leu
ENST00000688597.1:c.1224+6900_1224+6901delinsTT	ENSP00000510628.1:n.1224+6900_1224+6901delinsTT
ENST00000688701.1:n.773_774delinsTT
ENST00000690210.1:c.1529_1530delinsTT	ENSP00000509272.1:p.Gln510Leu
ENST00000690472.1:n.738_739delinsTT
ENST00000692624.1:c.*75_*76delinsTT	ENSP00000508953.1:n.*75_*76delinsTT
ENST00000351677.7:c.1529_1530delinsTT MANE Select	ENSP00000340944.3:p.Gln510Leu
ENST00000351677.6:c.1529_1530delinsTT	ENSP00000340944.2:p.Gln510Leu
ENST00000635625.1:c.1541_1542delinsTT	ENSP00000489597.1:p.Gln514Leu
ENST00000635652.1:c.542_543delinsTT	ENSP00000489541.1:p.Gln181Leu
NM_002834.3:c.1529_1530delinsTT , LRG_614t1:c.1529_1530delinsTT	NP_002825.3:p.Gln510Leu
XM_006719526.1:c.1541_1542delinsTT	XP_006719589.1:p.Gln514Leu
XM_006719527.1:c.1427_1428delinsTT	XP_006719590.1:p.Gln476Leu
XM_011538613.1:c.1538_1539delinsTT	XP_011536915.1:p.Gln513Leu
NM_001330437.1:c.1541_1542delinsTT	NP_001317366.1:p.Gln514Leu
NM_002834.4:c.1529_1530delinsTT	NP_002825.3:p.Gln510Leu
XM_011538613.2:c.1538_1539delinsTT	XP_011536915.1:p.Gln513Leu
XM_017019722.1:c.1526_1527delinsTT	XP_016875211.1:p.Gln509Leu
NM_001330437.2:c.1541_1542delinsTT	NP_001317366.1:p.Gln514Leu
NM_001374625.1:c.1526_1527delinsTT	NP_001361554.1:p.Gln509Leu
NM_002834.5:c.1529_1530delinsTT MANE Select	NP_002825.3:p.Gln510Leu