Canonical Allele Identifier: CA2636216234

Gene: PMP22

Linked Data

• dbSNP Id: rs112829799
• gnomAD v4: 17-15230797-T-TGTTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230808_15230812dup , CM000679.2:g.15230808_15230812dup	GRCh38
NC_000017.10:g.15134125_15134129dup , CM000679.1:g.15134125_15134129dup	GRCh37
NC_000017.9:g.15074850_15074854dup	NCBI36
NG_007949.1:g.39526_39530dup , LRG_263:g.39526_39530dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.*115_*119dup MANE Select	ENSP00000308937.3:n.*115_*119dup
ENST00000395936.7:c.*307_*311dup	ENSP00000379268.1:n.*307_*311dup
ENST00000395938.7:c.587_591dup	ENSP00000379269.3:p.Arg198GlnfsTer12
ENST00000494511.7:c.*115_*119dup	ENSP00000462782.2:n.*115_*119dup
ENST00000580584.3:c.*115_*119dup	ENSP00000464468.3:n.*115_*119dup
ENST00000612492.5:c.*115_*119dup	ENSP00000484631.1:n.*115_*119dup
ENST00000643451.2:c.*453_*457dup	ENSP00000494628.1:n.*453_*457dup
ENST00000644020.1:c.*307_*311dup	ENSP00000496522.1:n.*307_*311dup
ENST00000646419.2:c.*307_*311dup	ENSP00000494871.1:n.*307_*311dup
ENST00000674651.1:c.*115_*119dup	ENSP00000501727.1:n.*115_*119dup
ENST00000674673.1:c.*115_*119dup	ENSP00000501804.1:n.*115_*119dup
ENST00000674707.1:c.*115_*119dup	ENSP00000502250.1:n.*115_*119dup
ENST00000674868.1:c.*115_*119dup	ENSP00000502835.1:n.*115_*119dup
ENST00000674871.1:n.614_618dup
ENST00000674947.1:c.587_591dup	ENSP00000501580.1:p.Arg198GlnfsTer12
ENST00000675197.1:n.578_582dup
ENST00000675350.1:c.*115_*119dup	ENSP00000501557.1:n.*115_*119dup
ENST00000675551.1:c.*267_*271dup	ENSP00000501945.1:n.*267_*271dup
ENST00000675808.1:c.*115_*119dup	ENSP00000502310.1:n.*115_*119dup
ENST00000675819.1:c.*115_*119dup	ENSP00000502018.1:n.*115_*119dup
ENST00000675854.1:c.*115_*119dup	ENSP00000502324.1:n.*115_*119dup
ENST00000675950.1:c.*115_*119dup	ENSP00000501546.1:n.*115_*119dup
ENST00000676002.1:n.591_595dup
ENST00000676161.1:c.*115_*119dup	ENSP00000501766.1:n.*115_*119dup
ENST00000676221.1:c.*115_*119dup	ENSP00000502601.1:n.*115_*119dup
ENST00000676329.1:c.*115_*119dup	ENSP00000501698.1:n.*115_*119dup
ENST00000312280.7:c.*115_*119dup	ENSP00000308937.3:n.*115_*119dup
ENST00000395936.5:c.*307_*311dup	ENSP00000379268.1:n.*307_*311dup
ENST00000395938.6:c.*115_*119dup	ENSP00000379269.2:n.*115_*119dup
ENST00000494511.5:c.419_423dup	ENSP00000462782.1:p.Arg142GlnfsTer12
ENST00000612492.4:c.*115_*119dup	ENSP00000484631.1:n.*115_*119dup
NM_000304.3:c.*115_*119dup	NP_000295.1:n.*115_*119dup
NM_001281455.1:c.*115_*119dup	NP_001268384.1:n.*115_*119dup
NM_001281456.1:c.*115_*119dup	NP_001268385.1:n.*115_*119dup
NM_153321.2:c.*115_*119dup	NP_696996.1:n.*115_*119dup
NM_153322.2:c.*115_*119dup	NP_696997.1:n.*115_*119dup
NR_104017.1:n.724_728dup
NR_104018.1:n.624_628dup
NM_000304.4:c.*115_*119dup MANE Select	NP_000295.1:n.*115_*119dup
NM_001281456.2:c.*115_*119dup	NP_001268385.1:n.*115_*119dup
NM_153321.3:c.*115_*119dup	NP_696996.1:n.*115_*119dup
NM_153322.3:c.*115_*119dup	NP_696997.1:n.*115_*119dup
NR_104017.2:n.693_697dup
NR_104018.2:n.593_597dup
NM_001281455.2:c.*115_*119dup	NP_001268384.1:n.*115_*119dup