Canonical Allele Identifier: CA2830782538

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230951_15230952delinsAA , CM000679.2:g.15230951_15230952delinsAA	GRCh38
NC_000017.10:g.15134268_15134269delinsAA , CM000679.1:g.15134268_15134269delinsAA	GRCh37
NC_000017.9:g.15074993_15074994delinsAA	NCBI36
NG_007949.1:g.39376_39377delinsTT , LRG_263:g.39376_39377delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.448_449delinsTT MANE Select	ENSP00000308937.3:p.Gly150Phe
ENST00000395936.7:c.*157_*158delinsTT	ENSP00000379268.1:n.*157_*158delinsTT
ENST00000395938.7:c.437_438delinsTT	ENSP00000379269.3:p.Arg146Leu
ENST00000494511.7:c.244_245delinsTT	ENSP00000462782.2:p.Gly82Phe
ENST00000580584.3:c.244_245delinsTT	ENSP00000464468.3:p.Gly82Phe
ENST00000612492.5:c.448_449delinsTT	ENSP00000484631.1:p.Gly150Phe
ENST00000643451.2:c.*303_*304delinsTT	ENSP00000494628.1:n.*303_*304delinsTT
ENST00000644020.1:c.*157_*158delinsTT	ENSP00000496522.1:n.*157_*158delinsTT
ENST00000646419.2:c.*157_*158delinsTT	ENSP00000494871.1:n.*157_*158delinsTT
ENST00000674651.1:c.448_449delinsTT	ENSP00000501727.1:p.Gly150Phe
ENST00000674673.1:c.448_449delinsTT	ENSP00000501804.1:p.Gly150Phe
ENST00000674707.1:c.244_245delinsTT	ENSP00000502250.1:p.Gly82Phe
ENST00000674868.1:c.448_449delinsTT	ENSP00000502835.1:p.Gly150Phe
ENST00000674871.1:n.464_465delinsTT
ENST00000674947.1:c.437_438delinsTT	ENSP00000501580.1:p.Arg146Leu
ENST00000675197.1:n.428_429delinsTT
ENST00000675350.1:c.448_449delinsTT	ENSP00000501557.1:p.Gly150Phe
ENST00000675551.1:c.*117_*118delinsTT	ENSP00000501945.1:n.*117_*118delinsTT
ENST00000675808.1:c.448_449delinsTT	ENSP00000502310.1:p.Gly150Phe
ENST00000675819.1:c.448_449delinsTT	ENSP00000502018.1:p.Gly150Phe
ENST00000675854.1:c.244_245delinsTT	ENSP00000502324.1:p.Gly82Phe
ENST00000675950.1:c.448_449delinsTT	ENSP00000501546.1:p.Gly150Phe
ENST00000676002.1:n.441_442delinsTT
ENST00000676161.1:c.307_308delinsTT	ENSP00000501766.1:p.Gly103Phe
ENST00000676221.1:c.448_449delinsTT	ENSP00000502601.1:p.Gly150Phe
ENST00000676329.1:c.550_551delinsTT	ENSP00000501698.1:p.Gly184Phe
ENST00000312280.7:c.448_449delinsTT	ENSP00000308937.3:p.Gly150Phe
ENST00000395936.5:c.*157_*158delinsTT	ENSP00000379268.1:n.*157_*158delinsTT
ENST00000395938.6:c.448_449delinsTT	ENSP00000379269.2:p.Gly150Phe
ENST00000494511.5:c.269_270delinsTT	ENSP00000462782.1:p.Arg90Leu
ENST00000612492.4:c.448_449delinsTT	ENSP00000484631.1:p.Gly150Phe
NM_000304.3:c.448_449delinsTT	NP_000295.1:p.Gly150Phe
NM_001281455.1:c.448_449delinsTT	NP_001268384.1:p.Gly150Phe
NM_001281456.1:c.448_449delinsTT	NP_001268385.1:p.Gly150Phe
NM_153321.2:c.448_449delinsTT	NP_696996.1:p.Gly150Phe
NM_153322.2:c.448_449delinsTT	NP_696997.1:p.Gly150Phe
NR_104017.1:n.574_575delinsTT
NR_104018.1:n.474_475delinsTT
NM_000304.4:c.448_449delinsTT MANE Select	NP_000295.1:p.Gly150Phe
NM_001281456.2:c.448_449delinsTT	NP_001268385.1:p.Gly150Phe
NM_153321.3:c.448_449delinsTT	NP_696996.1:p.Gly150Phe
NM_153322.3:c.448_449delinsTT	NP_696997.1:p.Gly150Phe
NR_104017.2:n.543_544delinsTT
NR_104018.2:n.443_444delinsTT
NM_001281455.2:c.448_449delinsTT	NP_001268384.1:p.Gly150Phe