Canonical Allele Identifier: CA2830558147
Gene: PMP22 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15231184_15231185insCTTCCAGAGGTAGAAATGTTCTTCC , CM000679.2:g.15231184_15231185insCTTCCAGAGGTAGAAATGTTCTTCC GRCh38
NC_000017.10:g.15134501_15134502insCTTCCAGAGGTAGAAATGTTCTTCC , CM000679.1:g.15134501_15134502insCTTCCAGAGGTAGAAATGTTCTTCC GRCh37
NC_000017.9:g.15075226_15075227insCTTCCAGAGGTAGAAATGTTCTTCC NCBI36
NG_007949.1:g.39144_39145insGAAGAACATTTCTACCTCTGGAAGG , LRG_263:g.39144_39145insGAAGAACATTTCTACCTCTGGAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000312280.9:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG MANE Select ENSP00000308937.3:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000395936.7:c.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000379268.1:n.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000395938.7:c.309-104_309-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000379269.3:n.309-104_309-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000494511.7:c.116-104_116-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000462782.2:n.116-104_116-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000580584.3:c.116-104_116-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000464468.3:n.116-104_116-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000612492.5:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000484631.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000643451.2:c.*175-104_*175-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000494628.1:n.*175-104_*175-103insGAAGAACATTTCTACCTCTGG...
ENST00000644020.1:c.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000496522.1:n.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000646419.2:c.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000494871.1:n.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000674651.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501727.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000674673.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501804.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000674707.1:c.116-104_116-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000502250.1:n.116-104_116-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000674868.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000502835.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000674871.1:n.336-104_336-103insGAAGAACATTTCTACCTCTGGAAGG
ENST00000674947.1:c.309-104_309-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501580.1:n.309-104_309-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000675197.1:n.300-104_300-103insGAAGAACATTTCTACCTCTGGAAGG
ENST00000675350.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501557.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000675551.1:c.487-104_487-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501945.1:n.487-104_487-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000675808.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000502310.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000675819.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000502018.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000675854.1:c.116-104_116-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000502324.1:n.116-104_116-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000675950.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501546.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000676002.1:n.313-104_313-103insGAAGAACATTTCTACCTCTGGAAGG
ENST00000676161.1:c.179-104_179-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501766.1:n.179-104_179-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000676221.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000502601.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000676329.1:c.422-104_422-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000501698.1:n.422-104_422-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000312280.7:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000308937.3:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000395936.5:c.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000379268.1:n.*29-104_*29-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000395938.6:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000379269.2:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000494511.5:c.141-104_141-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000462782.1:n.141-104_141-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000580584.1:c.141-104_141-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000464468.1:n.141-104_141-103insGAAGAACATTTCTACCTCTGGAA...
ENST00000612492.4:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG ENSP00000484631.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAA...
NM_000304.3:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_000295.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_001281455.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_001268384.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_001281456.1:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_001268385.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_153321.2:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_696996.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_153322.2:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_696997.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NR_104017.1:n.446-104_446-103insGAAGAACATTTCTACCTCTGGAAGG
NR_104018.1:n.346-104_346-103insGAAGAACATTTCTACCTCTGGAAGG
NM_000304.4:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG MANE Select NP_000295.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_001281456.2:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_001268385.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_153321.3:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_696996.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NM_153322.3:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_696997.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG
NR_104017.2:n.415-104_415-103insGAAGAACATTTCTACCTCTGGAAGG
NR_104018.2:n.315-104_315-103insGAAGAACATTTCTACCTCTGGAAGG
NM_001281455.2:c.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG NP_001268384.1:n.320-104_320-103insGAAGAACATTTCTACCTCTGGAAGG