Canonical Allele Identifier: CA243707916

Gene: PTPN11

Linked Data

• dbSNP Id: rs748350921
• gnomAD v3: 12-112450284-TC-T
• gnomAD v4: 12-112450284-TC-T
• MyVariant Identifiers: chr12:g.112888089del (hg19) ; chr12:g.112450285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112450288del , CM000674.2:g.112450288del	GRCh38
NC_000012.11:g.112888092del , CM000674.1:g.112888092del	GRCh37
NC_000012.10:g.111372475del	NCBI36
NG_007459.1:g.36557del , LRG_614:g.36557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000639857.2:c.138-30del	ENSP00000491593.2:n.138-30del
ENST00000685487.1:c.138-30del	ENSP00000508503.1:n.138-30del
ENST00000687906.1:c.138-30del	ENSP00000509536.1:n.138-30del
ENST00000688597.1:c.138-30del	ENSP00000510628.1:n.138-30del
ENST00000690210.1:c.138-30del	ENSP00000509272.1:n.138-30del
ENST00000692624.1:c.138-30del	ENSP00000508953.1:n.138-30del
ENST00000351677.7:c.138-30del MANE Select	ENSP00000340944.3:n.138-30del
ENST00000639857.1:c.138-30del	ENSP00000491593.1:n.138-30del
ENST00000351677.6:c.138-30del	ENSP00000340944.2:n.138-30del
ENST00000392597.5:c.138-30del	ENSP00000376376.1:n.138-30del
ENST00000635625.1:c.138-30del	ENSP00000489597.1:n.138-30del
NM_002834.3:c.138-30del , LRG_614t1:c.138-30del	NP_002825.3:n.138-30del
NM_080601.1:c.138-30del	NP_542168.1:n.138-30del
XM_006719526.1:c.138-30del	XP_006719589.1:n.138-30del
XM_006719527.1:c.138-30del	XP_006719590.1:n.138-30del
XM_011538613.1:c.138-33del	XP_011536915.1:n.138-33del
NM_001330437.1:c.138-30del	NP_001317366.1:n.138-30del
NM_002834.4:c.138-30del	NP_002825.3:n.138-30del
NM_080601.2:c.138-30del	NP_542168.1:n.138-30del
XM_011538613.2:c.138-33del	XP_011536915.1:n.138-33del
XM_017019722.1:c.138-33del	XP_016875211.1:n.138-33del
NM_001330437.2:c.138-30del	NP_001317366.1:n.138-30del
NM_001374625.1:c.138-33del	NP_001361554.1:n.138-33del
NM_002834.5:c.138-30del MANE Select	NP_002825.3:n.138-30del
NM_080601.3:c.138-30del	NP_542168.1:n.138-30del