Canonical Allele Identifier: CA2636218196

Gene: PMP22

Linked Data

• gnomAD v4: 17-15260933-G-GAGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260933_15260934insAGGGA , CM000679.2:g.15260933_15260934insAGGGA	GRCh38
NC_000017.10:g.15164250_15164251insAGGGA , CM000679.1:g.15164250_15164251insAGGGA	GRCh37
NC_000017.9:g.15104975_15104976insAGGGA	NCBI36
NG_007949.1:g.9394_9395insTCCCT , LRG_263:g.9394_9395insTCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-173_-34-172insTCCCT MANE Select	ENSP00000308937.3:n.-34-173_-34-172insTCCCT
ENST00000395936.7:c.-34-173_-34-172insTCCCT	ENSP00000379268.1:n.-34-173_-34-172insTCCCT
ENST00000395938.7:c.-34-173_-34-172insTCCCT	ENSP00000379269.3:n.-34-173_-34-172insTCCCT
ENST00000426385.4:c.-34-173_-34-172insTCCCT	ENSP00000409824.3:n.-34-173_-34-172insTCCCT
ENST00000471150.3:n.156-173_156-172insTCCCT
ENST00000494511.7:c.-27+4220_-27+4221insTCCCT	ENSP00000462782.2:n.-27+4220_-27+4221insTCCCT
ENST00000580584.3:c.-126-1741_-126-1740insTCCCT	ENSP00000464468.3:n.-126-1741_-126-1740insTCCCT
ENST00000612492.5:c.-30-177_-30-176insTCCCT	ENSP00000484631.1:n.-30-177_-30-176insTCCCT
ENST00000643451.2:c.-34-173_-34-172insTCCCT	ENSP00000494628.1:n.-34-173_-34-172insTCCCT
ENST00000646419.2:c.-34-173_-34-172insTCCCT	ENSP00000494871.1:n.-34-173_-34-172insTCCCT
ENST00000674651.1:c.-34-173_-34-172insTCCCT	ENSP00000501727.1:n.-34-173_-34-172insTCCCT
ENST00000674673.1:c.-34-173_-34-172insTCCCT	ENSP00000501804.1:n.-34-173_-34-172insTCCCT
ENST00000674707.1:c.-27+1495_-27+1496insTCCCT	ENSP00000502250.1:n.-27+1495_-27+1496insTCCCT
ENST00000674868.1:c.-34-173_-34-172insTCCCT	ENSP00000502835.1:n.-34-173_-34-172insTCCCT
ENST00000675350.1:c.-34-173_-34-172insTCCCT	ENSP00000501557.1:n.-34-173_-34-172insTCCCT
ENST00000675808.1:c.-207_-206insTCCCT	ENSP00000502310.1:n.-207_-206insTCCCT
ENST00000675819.1:c.-34-173_-34-172insTCCCT	ENSP00000502018.1:n.-34-173_-34-172insTCCCT
ENST00000675854.1:c.-127+1495_-127+1496insTCCCT	ENSP00000502324.1:n.-127+1495_-127+1496insTCCCT
ENST00000675950.1:c.-34-173_-34-172insTCCCT	ENSP00000501546.1:n.-34-173_-34-172insTCCCT
ENST00000676161.1:c.-34-173_-34-172insTCCCT	ENSP00000501766.1:n.-34-173_-34-172insTCCCT
ENST00000676221.1:c.-30-177_-30-176insTCCCT	ENSP00000502601.1:n.-30-177_-30-176insTCCCT
ENST00000312280.7:c.-34-173_-34-172insTCCCT	ENSP00000308937.3:n.-34-173_-34-172insTCCCT
ENST00000395936.5:c.-34-173_-34-172insTCCCT	ENSP00000379268.1:n.-34-173_-34-172insTCCCT
ENST00000395938.6:c.-34-173_-34-172insTCCCT	ENSP00000379269.2:n.-34-173_-34-172insTCCCT
ENST00000426385.3:c.-34-173_-34-172insTCCCT	ENSP00000409824.3:n.-34-173_-34-172insTCCCT
ENST00000471150.2:n.156-173_156-172insTCCCT
ENST00000494511.5:c.-2+4220_-2+4221insTCCCT	ENSP00000462782.1:n.-2+4220_-2+4221insTCCCT
ENST00000580584.1:c.-101-1741_-101-1740insTCCCT	ENSP00000464468.1:n.-101-1741_-101-1740insTCCCT
ENST00000612492.4:c.-34-173_-34-172insTCCCT	ENSP00000484631.1:n.-34-173_-34-172insTCCCT
NM_000304.3:c.-34-173_-34-172insTCCCT	NP_000295.1:n.-34-173_-34-172insTCCCT
NM_001281455.1:c.-34-173_-34-172insTCCCT	NP_001268384.1:n.-34-173_-34-172insTCCCT
NM_001281456.1:c.-30-177_-30-176insTCCCT	NP_001268385.1:n.-30-177_-30-176insTCCCT
NM_153321.2:c.-34-173_-34-172insTCCCT	NP_696996.1:n.-34-173_-34-172insTCCCT
NR_104017.1:n.205-1741_205-1740insTCCCT
NR_104018.1:n.204+4220_204+4221insTCCCT
XM_011523943.1:c.-34-173_-34-172insTCCCT	XP_011522245.1:n.-34-173_-34-172insTCCCT
NM_001330143.1:c.-34-173_-34-172insTCCCT	NP_001317072.1:n.-34-173_-34-172insTCCCT
XM_024450806.1:c.-34-173_-34-172insTCCCT	XP_024306574.1:n.-34-173_-34-172insTCCCT
NM_000304.4:c.-34-173_-34-172insTCCCT MANE Select	NP_000295.1:n.-34-173_-34-172insTCCCT
NM_001281456.2:c.-30-177_-30-176insTCCCT	NP_001268385.1:n.-30-177_-30-176insTCCCT
NM_001330143.2:c.-34-173_-34-172insTCCCT	NP_001317072.1:n.-34-173_-34-172insTCCCT
NM_153321.3:c.-34-173_-34-172insTCCCT	NP_696996.1:n.-34-173_-34-172insTCCCT
NR_104017.2:n.174-1741_174-1740insTCCCT
NR_104018.2:n.173+4220_173+4221insTCCCT
NM_001281455.2:c.-34-173_-34-172insTCCCT	NP_001268384.1:n.-34-173_-34-172insTCCCT