Canonical Allele Identifier: CA2249521785

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260647_15260653delinsCACGCTG , CM000679.2:g.15260647_15260653delinsCACGCTG	GRCh38
NC_000017.10:g.15163964_15163970delinsCACGCTG , CM000679.1:g.15163964_15163970delinsCACGCTG	GRCh37
NC_000017.9:g.15104689_15104695delinsCACGCTG	NCBI36
NG_007949.1:g.9675_9681delinsCAGCGTG , LRG_263:g.9675_9681delinsCAGCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.75_78+3delinsCAGCGTG
ENST00000395936.7:c.75_78+3delinsCAGCGTG
ENST00000395938.7:c.75_78+3delinsCAGCGTG
ENST00000426385.4:c.75_78+3delinsCAGCGTG
ENST00000471150.3:n.264_270delinsCAGCGTG
ENST00000494511.7:c.-27+4501_-27+4507delinsCAGCGTG	ENSP00000462782.2:n.-27+4501_-27+4507delinsCAGCGTG
ENST00000580584.3:c.-126-1460_-126-1454delinsCAGCGTG	ENSP00000464468.3:n.-126-1460_-126-1454delinsCAGCGTG
ENST00000612492.5:c.75_78+3delinsCAGCGTG
ENST00000643451.2:c.75_78+3delinsCAGCGTG
ENST00000644020.1:c.75_78+3delinsCAGCGTG
ENST00000646419.2:c.75_78+3delinsCAGCGTG
ENST00000674651.1:c.75_78+3delinsCAGCGTG
ENST00000674673.1:c.75_78+3delinsCAGCGTG
ENST00000674707.1:c.-27+1776_-27+1782delinsCAGCGTG	ENSP00000502250.1:n.-27+1776_-27+1782delinsCAGCGTG
ENST00000674868.1:c.75_78+3delinsCAGCGTG
ENST00000674947.1:c.75_78+3delinsCAGCGTG
ENST00000675350.1:c.75_78+3delinsCAGCGTG
ENST00000675551.1:c.75_78+3delinsCAGCGTG
ENST00000675808.1:c.75_78+3delinsCAGCGTG
ENST00000675819.1:c.75_78+3delinsCAGCGTG
ENST00000675854.1:c.-126-1460_-126-1454delinsCAGCGTG	ENSP00000502324.1:n.-126-1460_-126-1454delinsCAGCGTG
ENST00000675950.1:c.75_78+3delinsCAGCGTG
ENST00000676161.1:c.75_78+3delinsCAGCGTG
ENST00000676221.1:c.75_78+3delinsCAGCGTG
ENST00000676329.1:c.75_78+3delinsCAGCGTG
ENST00000312280.7:c.75_78+3delinsCAGCGTG
ENST00000395936.5:c.75_78+3delinsCAGCGTG
ENST00000395938.6:c.75_78+3delinsCAGCGTG
ENST00000426385.3:c.75_78+3delinsCAGCGTG
ENST00000471150.2:n.264_270delinsCAGCGTG
ENST00000494511.5:c.-2+4501_-2+4507delinsCAGCGTG	ENSP00000462782.1:n.-2+4501_-2+4507delinsCAGCGTG
ENST00000580497.1:n.116_119+3delinsCAGCGTG
ENST00000580584.1:c.-101-1460_-101-1454delinsCAGCGTG	ENSP00000464468.1:n.-101-1460_-101-1454delinsCAGCGTG
ENST00000612492.4:c.75_78+3delinsCAGCGTG
NM_000304.3:c.75_78+3delinsCAGCGTG
NM_001281455.1:c.75_78+3delinsCAGCGTG
NM_001281456.1:c.75_78+3delinsCAGCGTG
NM_153321.2:c.75_78+3delinsCAGCGTG
NM_153322.2:c.75_78+3delinsCAGCGTG
NR_104017.1:n.205-1460_205-1454delinsCAGCGTG
NR_104018.1:n.204+4501_204+4507delinsCAGCGTG
XM_011523943.1:c.75_78+3delinsCAGCGTG
NM_001330143.1:c.75_78+3delinsCAGCGTG
XM_024450806.1:c.75_78+3delinsCAGCGTG
NM_000304.4:c.75_78+3delinsCAGCGTG
NM_001281456.2:c.75_78+3delinsCAGCGTG
NM_001330143.2:c.75_78+3delinsCAGCGTG
NM_153321.3:c.75_78+3delinsCAGCGTG
NM_153322.3:c.75_78+3delinsCAGCGTG
NR_104017.2:n.174-1460_174-1454delinsCAGCGTG
NR_104018.2:n.173+4501_173+4507delinsCAGCGTG
NM_001281455.2:c.75_78+3delinsCAGCGTG