Canonical Allele Identifier: CA915949577

Gene: PMP22

Linked Data

• ClinVar Variation Id: 637841
• ClinVar RCV Id: RCV000790171
• dbSNP Id: rs1597597781

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231053_15231054insGG , CM000679.2:g.15231053_15231054insGG	GRCh38
NC_000017.10:g.15134370_15134371insGG , CM000679.1:g.15134370_15134371insGG	GRCh37
NC_000017.9:g.15075095_15075096insGG	NCBI36
NG_007949.1:g.39274_39275insCC , LRG_263:g.39274_39275insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.346_347insCC MANE Select	ENSP00000308937.3:p.Ile116ThrfsTer5
ENST00000395936.7:c.*55_*56insCC	ENSP00000379268.1:n.*55_*56insCC
ENST00000395938.7:c.335_336insCC	ENSP00000379269.3:p.His114TyrfsTer?
ENST00000494511.7:c.142_143insCC	ENSP00000462782.2:p.Ile48ThrfsTer5
ENST00000580584.3:c.142_143insCC	ENSP00000464468.3:p.Ile48ThrfsTer5
ENST00000612492.5:c.346_347insCC	ENSP00000484631.1:p.Ile116ThrfsTer5
ENST00000643451.2:c.*201_*202insCC	ENSP00000494628.1:n.*201_*202insCC
ENST00000644020.1:c.*55_*56insCC	ENSP00000496522.1:n.*55_*56insCC
ENST00000646419.2:c.*55_*56insCC	ENSP00000494871.1:n.*55_*56insCC
ENST00000674651.1:c.346_347insCC	ENSP00000501727.1:p.Ile116ThrfsTer5
ENST00000674673.1:c.346_347insCC	ENSP00000501804.1:p.Ile116ThrfsTer5
ENST00000674707.1:c.142_143insCC	ENSP00000502250.1:p.Ile48ThrfsTer5
ENST00000674868.1:c.346_347insCC	ENSP00000502835.1:p.Ile116ThrfsTer5
ENST00000674871.1:n.362_363insCC
ENST00000674947.1:c.335_336insCC	ENSP00000501580.1:p.His114TyrfsTer?
ENST00000675197.1:n.326_327insCC
ENST00000675350.1:c.346_347insCC	ENSP00000501557.1:p.Ile116ThrfsTer5
ENST00000675551.1:c.*15_*16insCC	ENSP00000501945.1:n.*15_*16insCC
ENST00000675808.1:c.346_347insCC	ENSP00000502310.1:p.Ile116ThrfsTer5
ENST00000675819.1:c.346_347insCC	ENSP00000502018.1:p.Ile116ThrfsTer5
ENST00000675854.1:c.142_143insCC	ENSP00000502324.1:p.Ile48ThrfsTer5
ENST00000675950.1:c.346_347insCC	ENSP00000501546.1:p.Ile116ThrfsTer5
ENST00000676002.1:n.339_340insCC
ENST00000676161.1:c.205_206insCC	ENSP00000501766.1:p.Ile69ThrfsTer5
ENST00000676221.1:c.346_347insCC	ENSP00000502601.1:p.Ile116ThrfsTer5
ENST00000676329.1:c.448_449insCC	ENSP00000501698.1:p.Ile150ThrfsTer5
ENST00000312280.7:c.346_347insCC	ENSP00000308937.3:p.Ile116ThrfsTer5
ENST00000395936.5:c.*55_*56insCC	ENSP00000379268.1:n.*55_*56insCC
ENST00000395938.6:c.346_347insCC	ENSP00000379269.2:p.Ile116ThrfsTer5
ENST00000494511.5:c.167_168insCC	ENSP00000462782.1:p.His58TyrfsTer?
ENST00000612492.4:c.346_347insCC	ENSP00000484631.1:p.Ile116ThrfsTer5
NM_000304.3:c.346_347insCC	NP_000295.1:p.Ile116ThrfsTer5
NM_001281455.1:c.346_347insCC	NP_001268384.1:p.Ile116ThrfsTer5
NM_001281456.1:c.346_347insCC	NP_001268385.1:p.Ile116ThrfsTer5
NM_153321.2:c.346_347insCC	NP_696996.1:p.Ile116ThrfsTer5
NM_153322.2:c.346_347insCC	NP_696997.1:p.Ile116ThrfsTer5
NR_104017.1:n.472_473insCC
NR_104018.1:n.372_373insCC
NM_000304.4:c.346_347insCC MANE Select	NP_000295.1:p.Ile116ThrfsTer5
NM_001281456.2:c.346_347insCC	NP_001268385.1:p.Ile116ThrfsTer5
NM_153321.3:c.346_347insCC	NP_696996.1:p.Ile116ThrfsTer5
NM_153322.3:c.346_347insCC	NP_696997.1:p.Ile116ThrfsTer5
NR_104017.2:n.441_442insCC
NR_104018.2:n.341_342insCC
NM_001281455.2:c.346_347insCC	NP_001268384.1:p.Ile116ThrfsTer5