Canonical Allele Identifier: CA683695289

Gene: PTPN11

Linked Data

• dbSNP Id: rs1267311344
• gnomAD v4: 12-112502045-TCTCC-T
• MyVariant Identifiers: chr12:g.112939850_112939853del (hg19) ; chr12:g.112502046_112502049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112502049_112502052del , CM000674.2:g.112502049_112502052del	GRCh38
NC_000012.11:g.112939853_112939856del , CM000674.1:g.112939853_112939856del	GRCh37
NC_000012.10:g.111424236_111424239del	NCBI36
NG_007459.1:g.88318_88321del , LRG_614:g.88318_88321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1600-95_1600-92del	ENSP00000491593.2:n.1600-95_1600-92del
ENST00000685487.1:c.*802-95_*802-92del	ENSP00000508503.1:n.*802-95_*802-92del
ENST00000687120.1:n.888_891del
ENST00000687906.1:c.1486-95_1486-92del	ENSP00000509536.1:n.1486-95_1486-92del
ENST00000688597.1:c.1225-95_1225-92del	ENSP00000510628.1:n.1225-95_1225-92del
ENST00000688701.1:n.844-95_844-92del
ENST00000690210.1:c.1600-95_1600-92del	ENSP00000509272.1:n.1600-95_1600-92del
ENST00000690472.1:n.809-95_809-92del
ENST00000692624.1:c.*146-95_*146-92del	ENSP00000508953.1:n.*146-95_*146-92del
ENST00000351677.7:c.1600-95_1600-92del MANE Select	ENSP00000340944.3:n.1600-95_1600-92del
ENST00000351677.6:c.1600-95_1600-92del	ENSP00000340944.2:n.1600-95_1600-92del
ENST00000635625.1:c.1612-95_1612-92del	ENSP00000489597.1:n.1612-95_1612-92del
NM_002834.3:c.1600-95_1600-92del , LRG_614t1:c.1600-95_1600-92del	NP_002825.3:n.1600-95_1600-92del
XM_006719526.1:c.1612-95_1612-92del	XP_006719589.1:n.1612-95_1612-92del
XM_006719527.1:c.1498-95_1498-92del	XP_006719590.1:n.1498-95_1498-92del
XM_011538613.1:c.1609-95_1609-92del	XP_011536915.1:n.1609-95_1609-92del
NM_001330437.1:c.1612-95_1612-92del	NP_001317366.1:n.1612-95_1612-92del
NM_002834.4:c.1600-95_1600-92del	NP_002825.3:n.1600-95_1600-92del
XM_011538613.2:c.1609-95_1609-92del	XP_011536915.1:n.1609-95_1609-92del
XM_017019722.1:c.1597-95_1597-92del	XP_016875211.1:n.1597-95_1597-92del
NM_001330437.2:c.1612-95_1612-92del	NP_001317366.1:n.1612-95_1612-92del
NM_001374625.1:c.1597-95_1597-92del	NP_001361554.1:n.1597-95_1597-92del
NM_002834.5:c.1600-95_1600-92del MANE Select	NP_002825.3:n.1600-95_1600-92del