Canonical Allele Identifier: CA2249498240

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231032_15231033delinsTC , CM000679.2:g.15231032_15231033delinsTC	GRCh38
NC_000017.10:g.15134349_15134350delinsTC , CM000679.1:g.15134349_15134350delinsTC	GRCh37
NC_000017.9:g.15075074_15075075delinsTC	NCBI36
NG_007949.1:g.39295_39296delinsGA , LRG_263:g.39295_39296delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.367_368delinsGA MANE Select	ENSP00000308937.3:p.Glu123=
ENST00000395936.7:c.*76_*77delinsGA	ENSP00000379268.1:n.*76_*77delinsGA
ENST00000395938.7:c.356_357delinsGA	ENSP00000379269.3:p.Gly119=
ENST00000494511.7:c.163_164delinsGA	ENSP00000462782.2:p.Glu55=
ENST00000580584.3:c.163_164delinsGA	ENSP00000464468.3:p.Glu55=
ENST00000612492.5:c.367_368delinsGA	ENSP00000484631.1:p.Glu123=
ENST00000643451.2:c.*222_*223delinsGA	ENSP00000494628.1:n.*222_*223delinsGA
ENST00000644020.1:c.*76_*77delinsGA	ENSP00000496522.1:n.*76_*77delinsGA
ENST00000646419.2:c.*76_*77delinsGA	ENSP00000494871.1:n.*76_*77delinsGA
ENST00000674651.1:c.367_368delinsGA	ENSP00000501727.1:p.Glu123=
ENST00000674673.1:c.367_368delinsGA	ENSP00000501804.1:p.Glu123=
ENST00000674707.1:c.163_164delinsGA	ENSP00000502250.1:p.Glu55=
ENST00000674868.1:c.367_368delinsGA	ENSP00000502835.1:p.Glu123=
ENST00000674871.1:n.383_384delinsGA
ENST00000674947.1:c.356_357delinsGA	ENSP00000501580.1:p.Gly119=
ENST00000675197.1:n.347_348delinsGA
ENST00000675350.1:c.367_368delinsGA	ENSP00000501557.1:p.Glu123=
ENST00000675551.1:c.*36_*37delinsGA	ENSP00000501945.1:n.*36_*37delinsGA
ENST00000675808.1:c.367_368delinsGA	ENSP00000502310.1:p.Glu123=
ENST00000675819.1:c.367_368delinsGA	ENSP00000502018.1:p.Glu123=
ENST00000675854.1:c.163_164delinsGA	ENSP00000502324.1:p.Glu55=
ENST00000675950.1:c.367_368delinsGA	ENSP00000501546.1:p.Glu123=
ENST00000676002.1:n.360_361delinsGA
ENST00000676161.1:c.226_227delinsGA	ENSP00000501766.1:p.Glu76=
ENST00000676221.1:c.367_368delinsGA	ENSP00000502601.1:p.Glu123=
ENST00000676329.1:c.469_470delinsGA	ENSP00000501698.1:p.Glu157=
ENST00000312280.7:c.367_368delinsGA	ENSP00000308937.3:p.Glu123=
ENST00000395936.5:c.*76_*77delinsGA	ENSP00000379268.1:n.*76_*77delinsGA
ENST00000395938.6:c.367_368delinsGA	ENSP00000379269.2:p.Glu123=
ENST00000494511.5:c.188_189delinsGA	ENSP00000462782.1:p.Gly63=
ENST00000612492.4:c.367_368delinsGA	ENSP00000484631.1:p.Glu123=
NM_000304.3:c.367_368delinsGA	NP_000295.1:p.Glu123=
NM_001281455.1:c.367_368delinsGA	NP_001268384.1:p.Glu123=
NM_001281456.1:c.367_368delinsGA	NP_001268385.1:p.Glu123=
NM_153321.2:c.367_368delinsGA	NP_696996.1:p.Glu123=
NM_153322.2:c.367_368delinsGA	NP_696997.1:p.Glu123=
NR_104017.1:n.493_494delinsGA
NR_104018.1:n.393_394delinsGA
NM_000304.4:c.367_368delinsGA MANE Select	NP_000295.1:p.Glu123=
NM_001281456.2:c.367_368delinsGA	NP_001268385.1:p.Glu123=
NM_153321.3:c.367_368delinsGA	NP_696996.1:p.Glu123=
NM_153322.3:c.367_368delinsGA	NP_696997.1:p.Glu123=
NR_104017.2:n.462_463delinsGA
NR_104018.2:n.362_363delinsGA
NM_001281455.2:c.367_368delinsGA	NP_001268384.1:p.Glu123=