Canonical Allele Identifier: CA2621026821

Gene: PTPN11

Linked Data

• gnomAD v4: 12-112489316-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489319_112489320dup , CM000674.2:g.112489319_112489320dup	GRCh38
NC_000012.11:g.112927123_112927124dup , CM000674.1:g.112927123_112927124dup	GRCh37
NC_000012.10:g.111411506_111411507dup	NCBI36
NG_007459.1:g.75588_75589dup , LRG_614:g.75588_75589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1599+144_1599+145dup	ENSP00000491593.2:n.1599+144_1599+145dup
ENST00000685487.1:c.*132_*133dup	ENSP00000508503.1:n.*132_*133dup
ENST00000687624.1:n.408_409dup
ENST00000687906.1:c.1485+144_1485+145dup	ENSP00000509536.1:n.1485+144_1485+145dup
ENST00000688597.1:c.1224+7114_1224+7115dup	ENSP00000510628.1:n.1224+7114_1224+7115dup
ENST00000688701.1:n.843+144_843+145dup
ENST00000690210.1:c.1599+144_1599+145dup	ENSP00000509272.1:n.1599+144_1599+145dup
ENST00000690472.1:n.808+144_808+145dup
ENST00000692624.1:c.*145+144_*145+145dup	ENSP00000508953.1:n.*145+144_*145+145dup
ENST00000351677.7:c.1599+144_1599+145dup MANE Select	ENSP00000340944.3:n.1599+144_1599+145dup
ENST00000351677.6:c.1599+144_1599+145dup	ENSP00000340944.2:n.1599+144_1599+145dup
ENST00000635625.1:c.1611+144_1611+145dup	ENSP00000489597.1:n.1611+144_1611+145dup
NM_002834.3:c.1599+144_1599+145dup , LRG_614t1:c.1599+144_1599+145dup	NP_002825.3:n.1599+144_1599+145dup
XM_006719526.1:c.1611+144_1611+145dup	XP_006719589.1:n.1611+144_1611+145dup
XM_006719527.1:c.1497+144_1497+145dup	XP_006719590.1:n.1497+144_1497+145dup
XM_011538613.1:c.1608+144_1608+145dup	XP_011536915.1:n.1608+144_1608+145dup
NM_001330437.1:c.1611+144_1611+145dup	NP_001317366.1:n.1611+144_1611+145dup
NM_002834.4:c.1599+144_1599+145dup	NP_002825.3:n.1599+144_1599+145dup
XM_011538613.2:c.1608+144_1608+145dup	XP_011536915.1:n.1608+144_1608+145dup
XM_017019722.1:c.1596+144_1596+145dup	XP_016875211.1:n.1596+144_1596+145dup
NM_001330437.2:c.1611+144_1611+145dup	NP_001317366.1:n.1611+144_1611+145dup
NM_001374625.1:c.1596+144_1596+145dup	NP_001361554.1:n.1596+144_1596+145dup
NM_002834.5:c.1599+144_1599+145dup MANE Select	NP_002825.3:n.1599+144_1599+145dup