Canonical Allele Identifier: CA2249498274

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231044_15231056delinsACCGTGTAGATGG , CM000679.2:g.15231044_15231056delinsACCGTGTAGATGG	GRCh38
NC_000017.10:g.15134361_15134373delinsACCGTGTAGATGG , CM000679.1:g.15134361_15134373delinsACCGTGTAGATGG	GRCh37
NC_000017.9:g.15075086_15075098delinsACCGTGTAGATGG	NCBI36
NG_007949.1:g.39272_39284delinsCCATCTACACGGT , LRG_263:g.39272_39284delinsCCATCTACACGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.344_356delinsCCATCTACACGGT MANE Select	ENSP00000308937.3:p.Ala115=
ENST00000395936.7:c.*53_*65delinsCCATCTACACGGT	ENSP00000379268.1:n.*53_*65delinsCCATCTACACGGT
ENST00000395938.7:c.333_345delinsCCATCTACACGGT	ENSP00000379269.3:p.Gly111=
ENST00000494511.7:c.140_152delinsCCATCTACACGGT	ENSP00000462782.2:p.Ala47=
ENST00000580584.3:c.140_152delinsCCATCTACACGGT	ENSP00000464468.3:p.Ala47=
ENST00000612492.5:c.344_356delinsCCATCTACACGGT	ENSP00000484631.1:p.Ala115=
ENST00000643451.2:c.*199_*211delinsCCATCTACACGGT	ENSP00000494628.1:n.*199_*211delinsCCATCTACACGGT
ENST00000644020.1:c.*53_*65delinsCCATCTACACGGT	ENSP00000496522.1:n.*53_*65delinsCCATCTACACGGT
ENST00000646419.2:c.*53_*65delinsCCATCTACACGGT	ENSP00000494871.1:n.*53_*65delinsCCATCTACACGGT
ENST00000674651.1:c.344_356delinsCCATCTACACGGT	ENSP00000501727.1:p.Ala115=
ENST00000674673.1:c.344_356delinsCCATCTACACGGT	ENSP00000501804.1:p.Ala115=
ENST00000674707.1:c.140_152delinsCCATCTACACGGT	ENSP00000502250.1:p.Ala47=
ENST00000674868.1:c.344_356delinsCCATCTACACGGT	ENSP00000502835.1:p.Ala115=
ENST00000674871.1:n.360_372delinsCCATCTACACGGT
ENST00000674947.1:c.333_345delinsCCATCTACACGGT	ENSP00000501580.1:p.Gly111=
ENST00000675197.1:n.324_336delinsCCATCTACACGGT
ENST00000675350.1:c.344_356delinsCCATCTACACGGT	ENSP00000501557.1:p.Ala115=
ENST00000675551.1:c.*13_*25delinsCCATCTACACGGT	ENSP00000501945.1:n.*13_*25delinsCCATCTACACGGT
ENST00000675808.1:c.344_356delinsCCATCTACACGGT	ENSP00000502310.1:p.Ala115=
ENST00000675819.1:c.344_356delinsCCATCTACACGGT	ENSP00000502018.1:p.Ala115=
ENST00000675854.1:c.140_152delinsCCATCTACACGGT	ENSP00000502324.1:p.Ala47=
ENST00000675950.1:c.344_356delinsCCATCTACACGGT	ENSP00000501546.1:p.Ala115=
ENST00000676002.1:n.337_349delinsCCATCTACACGGT
ENST00000676161.1:c.203_215delinsCCATCTACACGGT	ENSP00000501766.1:p.Ala68=
ENST00000676221.1:c.344_356delinsCCATCTACACGGT	ENSP00000502601.1:p.Ala115=
ENST00000676329.1:c.446_458delinsCCATCTACACGGT	ENSP00000501698.1:p.Ala149=
ENST00000312280.7:c.344_356delinsCCATCTACACGGT	ENSP00000308937.3:p.Ala115=
ENST00000395936.5:c.*53_*65delinsCCATCTACACGGT	ENSP00000379268.1:n.*53_*65delinsCCATCTACACGGT
ENST00000395938.6:c.344_356delinsCCATCTACACGGT	ENSP00000379269.2:p.Ala115=
ENST00000494511.5:c.165_177delinsCCATCTACACGGT	ENSP00000462782.1:p.Gly55=
ENST00000612492.4:c.344_356delinsCCATCTACACGGT	ENSP00000484631.1:p.Ala115=
NM_000304.3:c.344_356delinsCCATCTACACGGT	NP_000295.1:p.Ala115=
NM_001281455.1:c.344_356delinsCCATCTACACGGT	NP_001268384.1:p.Ala115=
NM_001281456.1:c.344_356delinsCCATCTACACGGT	NP_001268385.1:p.Ala115=
NM_153321.2:c.344_356delinsCCATCTACACGGT	NP_696996.1:p.Ala115=
NM_153322.2:c.344_356delinsCCATCTACACGGT	NP_696997.1:p.Ala115=
NR_104017.1:n.470_482delinsCCATCTACACGGT
NR_104018.1:n.370_382delinsCCATCTACACGGT
NM_000304.4:c.344_356delinsCCATCTACACGGT MANE Select	NP_000295.1:p.Ala115=
NM_001281456.2:c.344_356delinsCCATCTACACGGT	NP_001268385.1:p.Ala115=
NM_153321.3:c.344_356delinsCCATCTACACGGT	NP_696996.1:p.Ala115=
NM_153322.3:c.344_356delinsCCATCTACACGGT	NP_696997.1:p.Ala115=
NR_104017.2:n.439_451delinsCCATCTACACGGT
NR_104018.2:n.339_351delinsCCATCTACACGGT
NM_001281455.2:c.344_356delinsCCATCTACACGGT	NP_001268384.1:p.Ala115=