Canonical Allele Identifier: CA2249498481

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231335_15231339delinsTTCTC , CM000679.2:g.15231335_15231339delinsTTCTC	GRCh38
NC_000017.10:g.15134652_15134656delinsTTCTC , CM000679.1:g.15134652_15134656delinsTTCTC	GRCh37
NC_000017.9:g.15075377_15075381delinsTTCTC	NCBI36
NG_007949.1:g.38989_38993delinsGAGAA , LRG_263:g.38989_38993delinsGAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.320-259_320-255delinsGAGAA MANE Select	ENSP00000308937.3:n.320-259_320-255delinsGAGAA
ENST00000395936.7:c.*29-259_*29-255delinsGAGAA	ENSP00000379268.1:n.*29-259_*29-255delinsGAGAA
ENST00000395938.7:c.309-259_309-255delinsGAGAA	ENSP00000379269.3:n.309-259_309-255delinsGAGAA
ENST00000494511.7:c.116-259_116-255delinsGAGAA	ENSP00000462782.2:n.116-259_116-255delinsGAGAA
ENST00000580584.3:c.116-259_116-255delinsGAGAA	ENSP00000464468.3:n.116-259_116-255delinsGAGAA
ENST00000612492.5:c.320-259_320-255delinsGAGAA	ENSP00000484631.1:n.320-259_320-255delinsGAGAA
ENST00000643451.2:c.*175-259_*175-255delinsGAGAA	ENSP00000494628.1:n.*175-259_*175-255delinsGAGAA
ENST00000644020.1:c.*29-259_*29-255delinsGAGAA	ENSP00000496522.1:n.*29-259_*29-255delinsGAGAA
ENST00000646419.2:c.*29-259_*29-255delinsGAGAA	ENSP00000494871.1:n.*29-259_*29-255delinsGAGAA
ENST00000674651.1:c.320-259_320-255delinsGAGAA	ENSP00000501727.1:n.320-259_320-255delinsGAGAA
ENST00000674673.1:c.320-259_320-255delinsGAGAA	ENSP00000501804.1:n.320-259_320-255delinsGAGAA
ENST00000674707.1:c.116-259_116-255delinsGAGAA	ENSP00000502250.1:n.116-259_116-255delinsGAGAA
ENST00000674868.1:c.320-259_320-255delinsGAGAA	ENSP00000502835.1:n.320-259_320-255delinsGAGAA
ENST00000674871.1:n.336-259_336-255delinsGAGAA
ENST00000674947.1:c.309-259_309-255delinsGAGAA	ENSP00000501580.1:n.309-259_309-255delinsGAGAA
ENST00000675197.1:n.300-259_300-255delinsGAGAA
ENST00000675350.1:c.320-259_320-255delinsGAGAA	ENSP00000501557.1:n.320-259_320-255delinsGAGAA
ENST00000675551.1:c.487-259_487-255delinsGAGAA	ENSP00000501945.1:n.487-259_487-255delinsGAGAA
ENST00000675808.1:c.320-259_320-255delinsGAGAA	ENSP00000502310.1:n.320-259_320-255delinsGAGAA
ENST00000675819.1:c.320-259_320-255delinsGAGAA	ENSP00000502018.1:n.320-259_320-255delinsGAGAA
ENST00000675854.1:c.116-259_116-255delinsGAGAA	ENSP00000502324.1:n.116-259_116-255delinsGAGAA
ENST00000675950.1:c.320-259_320-255delinsGAGAA	ENSP00000501546.1:n.320-259_320-255delinsGAGAA
ENST00000676002.1:n.313-259_313-255delinsGAGAA
ENST00000676161.1:c.179-259_179-255delinsGAGAA	ENSP00000501766.1:n.179-259_179-255delinsGAGAA
ENST00000676221.1:c.320-259_320-255delinsGAGAA	ENSP00000502601.1:n.320-259_320-255delinsGAGAA
ENST00000676329.1:c.422-259_422-255delinsGAGAA	ENSP00000501698.1:n.422-259_422-255delinsGAGAA
ENST00000312280.7:c.320-259_320-255delinsGAGAA	ENSP00000308937.3:n.320-259_320-255delinsGAGAA
ENST00000395936.5:c.*29-259_*29-255delinsGAGAA	ENSP00000379268.1:n.*29-259_*29-255delinsGAGAA
ENST00000395938.6:c.320-259_320-255delinsGAGAA	ENSP00000379269.2:n.320-259_320-255delinsGAGAA
ENST00000494511.5:c.141-259_141-255delinsGAGAA	ENSP00000462782.1:n.141-259_141-255delinsGAGAA
ENST00000580584.1:c.141-259_141-255delinsGAGAA	ENSP00000464468.1:n.141-259_141-255delinsGAGAA
ENST00000612492.4:c.320-259_320-255delinsGAGAA	ENSP00000484631.1:n.320-259_320-255delinsGAGAA
NM_000304.3:c.320-259_320-255delinsGAGAA	NP_000295.1:n.320-259_320-255delinsGAGAA
NM_001281455.1:c.320-259_320-255delinsGAGAA	NP_001268384.1:n.320-259_320-255delinsGAGAA
NM_001281456.1:c.320-259_320-255delinsGAGAA	NP_001268385.1:n.320-259_320-255delinsGAGAA
NM_153321.2:c.320-259_320-255delinsGAGAA	NP_696996.1:n.320-259_320-255delinsGAGAA
NM_153322.2:c.320-259_320-255delinsGAGAA	NP_696997.1:n.320-259_320-255delinsGAGAA
NR_104017.1:n.446-259_446-255delinsGAGAA
NR_104018.1:n.346-259_346-255delinsGAGAA
NM_000304.4:c.320-259_320-255delinsGAGAA MANE Select	NP_000295.1:n.320-259_320-255delinsGAGAA
NM_001281456.2:c.320-259_320-255delinsGAGAA	NP_001268385.1:n.320-259_320-255delinsGAGAA
NM_153321.3:c.320-259_320-255delinsGAGAA	NP_696996.1:n.320-259_320-255delinsGAGAA
NM_153322.3:c.320-259_320-255delinsGAGAA	NP_696997.1:n.320-259_320-255delinsGAGAA
NR_104017.2:n.415-259_415-255delinsGAGAA
NR_104018.2:n.315-259_315-255delinsGAGAA
NM_001281455.2:c.320-259_320-255delinsGAGAA	NP_001268384.1:n.320-259_320-255delinsGAGAA