Canonical Allele Identifier: CA259752
Gene: PMP22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15231048_15231059del , CM000679.2:g.15231048_15231059del GRCh38
NC_000017.10:g.15134365_15134376del , CM000679.1:g.15134365_15134376del GRCh37
NC_000017.9:g.15075090_15075101del NCBI36
NG_007949.1:g.39272_39283del , LRG_263:g.39272_39283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000312280.9:c.344_355del MANE Select ENSP00000308937.3:p.Ala115_Thr118del
ENST00000395936.7:c.*53_*64del ENSP00000379268.1:n.*53_*64del
ENST00000395938.7:c.333_344del ENSP00000379269.3:p.His112_Gly115del
ENST00000494511.7:c.140_151del ENSP00000462782.2:p.Ala47_Thr50del
ENST00000580584.3:c.140_151del ENSP00000464468.3:p.Ala47_Thr50del
ENST00000612492.5:c.344_355del ENSP00000484631.1:p.Ala115_Thr118del
ENST00000643451.2:c.*199_*210del ENSP00000494628.1:n.*199_*210del
ENST00000644020.1:c.*53_*64del ENSP00000496522.1:n.*53_*64del
ENST00000646419.2:c.*53_*64del ENSP00000494871.1:n.*53_*64del
ENST00000674651.1:c.344_355del ENSP00000501727.1:p.Ala115_Thr118del
ENST00000674673.1:c.344_355del ENSP00000501804.1:p.Ala115_Thr118del
ENST00000674707.1:c.140_151del ENSP00000502250.1:p.Ala47_Thr50del
ENST00000674868.1:c.344_355del ENSP00000502835.1:p.Ala115_Thr118del
ENST00000674871.1:n.360_371del
ENST00000674947.1:c.333_344del ENSP00000501580.1:p.His112_Gly115del
ENST00000675197.1:n.324_335del
ENST00000675350.1:c.344_355del ENSP00000501557.1:p.Ala115_Thr118del
ENST00000675551.1:c.*13_*24del ENSP00000501945.1:n.*13_*24del
ENST00000675808.1:c.344_355del ENSP00000502310.1:p.Ala115_Thr118del
ENST00000675819.1:c.344_355del ENSP00000502018.1:p.Ala115_Thr118del
ENST00000675854.1:c.140_151del ENSP00000502324.1:p.Ala47_Thr50del
ENST00000675950.1:c.344_355del ENSP00000501546.1:p.Ala115_Thr118del
ENST00000676002.1:n.337_348del
ENST00000676161.1:c.203_214del ENSP00000501766.1:p.Ala68_Thr71del
ENST00000676221.1:c.344_355del ENSP00000502601.1:p.Ala115_Thr118del
ENST00000676329.1:c.446_457del ENSP00000501698.1:p.Ala149_Thr152del
ENST00000312280.7:c.344_355del ENSP00000308937.3:p.Ala115_Thr118del
ENST00000395936.5:c.*53_*64del ENSP00000379268.1:n.*53_*64del
ENST00000395938.6:c.344_355del ENSP00000379269.2:p.Ala115_Thr118del
ENST00000494511.5:c.165_176del ENSP00000462782.1:p.His56_Gly59del
ENST00000612492.4:c.344_355del ENSP00000484631.1:p.Ala115_Thr118del
NM_000304.3:c.344_355del NP_000295.1:p.Ala115_Thr118del
NM_001281455.1:c.344_355del NP_001268384.1:p.Ala115_Thr118del
NM_001281456.1:c.344_355del NP_001268385.1:p.Ala115_Thr118del
NM_153321.2:c.344_355del NP_696996.1:p.Ala115_Thr118del
NM_153322.2:c.344_355del NP_696997.1:p.Ala115_Thr118del
NR_104017.1:n.470_481del
NR_104018.1:n.370_381del
NM_000304.4:c.344_355del MANE Select NP_000295.1:p.Ala115_Thr118del
NM_001281456.2:c.344_355del NP_001268385.1:p.Ala115_Thr118del
NM_153321.3:c.344_355del NP_696996.1:p.Ala115_Thr118del
NM_153322.3:c.344_355del NP_696997.1:p.Ala115_Thr118del
NR_104017.2:n.439_450del
NR_104018.2:n.339_350del
NM_001281455.2:c.344_355del NP_001268384.1:p.Ala115_Thr118del