Canonical Allele Identifier: CA2249522758

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260961_15260962delinsGC , CM000679.2:g.15260961_15260962delinsGC	GRCh38
NC_000017.10:g.15164278_15164279delinsGC , CM000679.1:g.15164278_15164279delinsGC	GRCh37
NC_000017.9:g.15105003_15105004delinsGC	NCBI36
NG_007949.1:g.9366_9367delinsGC , LRG_263:g.9366_9367delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-201_-34-200delinsGC MANE Select	ENSP00000308937.3:n.-34-201_-34-200delinsGC
ENST00000395936.7:c.-34-201_-34-200delinsGC	ENSP00000379268.1:n.-34-201_-34-200delinsGC
ENST00000395938.7:c.-34-201_-34-200delinsGC	ENSP00000379269.3:n.-34-201_-34-200delinsGC
ENST00000426385.4:c.-34-201_-34-200delinsGC	ENSP00000409824.3:n.-34-201_-34-200delinsGC
ENST00000471150.3:n.156-201_156-200delinsGC
ENST00000494511.7:c.-27+4192_-27+4193delinsGC	ENSP00000462782.2:n.-27+4192_-27+4193delinsGC
ENST00000580584.3:c.-126-1769_-126-1768delinsGC	ENSP00000464468.3:n.-126-1769_-126-1768delinsGC
ENST00000612492.5:c.-30-205_-30-204delinsGC	ENSP00000484631.1:n.-30-205_-30-204delinsGC
ENST00000643451.2:c.-34-201_-34-200delinsGC	ENSP00000494628.1:n.-34-201_-34-200delinsGC
ENST00000646419.2:c.-34-201_-34-200delinsGC	ENSP00000494871.1:n.-34-201_-34-200delinsGC
ENST00000674651.1:c.-34-201_-34-200delinsGC	ENSP00000501727.1:n.-34-201_-34-200delinsGC
ENST00000674673.1:c.-34-201_-34-200delinsGC	ENSP00000501804.1:n.-34-201_-34-200delinsGC
ENST00000674707.1:c.-27+1467_-27+1468delinsGC	ENSP00000502250.1:n.-27+1467_-27+1468delinsGC
ENST00000674868.1:c.-34-201_-34-200delinsGC	ENSP00000502835.1:n.-34-201_-34-200delinsGC
ENST00000675350.1:c.-34-201_-34-200delinsGC	ENSP00000501557.1:n.-34-201_-34-200delinsGC
ENST00000675808.1:c.-235_-234delinsGC	ENSP00000502310.1:n.-235_-234delinsGC
ENST00000675819.1:c.-34-201_-34-200delinsGC	ENSP00000502018.1:n.-34-201_-34-200delinsGC
ENST00000675854.1:c.-127+1467_-127+1468delinsGC	ENSP00000502324.1:n.-127+1467_-127+1468delinsGC
ENST00000675950.1:c.-34-201_-34-200delinsGC	ENSP00000501546.1:n.-34-201_-34-200delinsGC
ENST00000676161.1:c.-34-201_-34-200delinsGC	ENSP00000501766.1:n.-34-201_-34-200delinsGC
ENST00000676221.1:c.-30-205_-30-204delinsGC	ENSP00000502601.1:n.-30-205_-30-204delinsGC
ENST00000312280.7:c.-34-201_-34-200delinsGC	ENSP00000308937.3:n.-34-201_-34-200delinsGC
ENST00000395936.5:c.-34-201_-34-200delinsGC	ENSP00000379268.1:n.-34-201_-34-200delinsGC
ENST00000395938.6:c.-34-201_-34-200delinsGC	ENSP00000379269.2:n.-34-201_-34-200delinsGC
ENST00000426385.3:c.-34-201_-34-200delinsGC	ENSP00000409824.3:n.-34-201_-34-200delinsGC
ENST00000471150.2:n.156-201_156-200delinsGC
ENST00000494511.5:c.-2+4192_-2+4193delinsGC	ENSP00000462782.1:n.-2+4192_-2+4193delinsGC
ENST00000580584.1:c.-101-1769_-101-1768delinsGC	ENSP00000464468.1:n.-101-1769_-101-1768delinsGC
ENST00000612492.4:c.-34-201_-34-200delinsGC	ENSP00000484631.1:n.-34-201_-34-200delinsGC
NM_000304.3:c.-34-201_-34-200delinsGC	NP_000295.1:n.-34-201_-34-200delinsGC
NM_001281455.1:c.-34-201_-34-200delinsGC	NP_001268384.1:n.-34-201_-34-200delinsGC
NM_001281456.1:c.-30-205_-30-204delinsGC	NP_001268385.1:n.-30-205_-30-204delinsGC
NM_153321.2:c.-34-201_-34-200delinsGC	NP_696996.1:n.-34-201_-34-200delinsGC
NR_104017.1:n.205-1769_205-1768delinsGC
NR_104018.1:n.204+4192_204+4193delinsGC
XM_011523943.1:c.-34-201_-34-200delinsGC	XP_011522245.1:n.-34-201_-34-200delinsGC
NM_001330143.1:c.-34-201_-34-200delinsGC	NP_001317072.1:n.-34-201_-34-200delinsGC
XM_024450806.1:c.-34-201_-34-200delinsGC	XP_024306574.1:n.-34-201_-34-200delinsGC
NM_000304.4:c.-34-201_-34-200delinsGC MANE Select	NP_000295.1:n.-34-201_-34-200delinsGC
NM_001281456.2:c.-30-205_-30-204delinsGC	NP_001268385.1:n.-30-205_-30-204delinsGC
NM_001330143.2:c.-34-201_-34-200delinsGC	NP_001317072.1:n.-34-201_-34-200delinsGC
NM_153321.3:c.-34-201_-34-200delinsGC	NP_696996.1:n.-34-201_-34-200delinsGC
NR_104017.2:n.174-1769_174-1768delinsGC
NR_104018.2:n.173+4192_173+4193delinsGC
NM_001281455.2:c.-34-201_-34-200delinsGC	NP_001268384.1:n.-34-201_-34-200delinsGC