Canonical Allele Identifier: CA915949576

Gene: PMP22

Linked Data

• ClinVar Variation Id: 637818
• ClinVar RCV Id: RCV000790142
• dbSNP Id: rs1597597725

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231036_15231037del , CM000679.2:g.15231036_15231037del	GRCh38
NC_000017.10:g.15134353_15134354del , CM000679.1:g.15134353_15134354del	GRCh37
NC_000017.9:g.15075078_15075079del	NCBI36
NG_007949.1:g.39292_39293del , LRG_263:g.39292_39293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.364_365del MANE Select	ENSP00000308937.3:p.Pro122GlyfsTer?
ENST00000395936.7:c.*73_*74del	ENSP00000379268.1:n.*73_*74del
ENST00000395938.7:c.353_354del	ENSP00000379269.3:p.Pro118ArgfsTer?
ENST00000494511.7:c.160_161del	ENSP00000462782.2:p.Pro54GlyfsTer?
ENST00000580584.3:c.160_161del	ENSP00000464468.3:p.Pro54GlyfsTer?
ENST00000612492.5:c.364_365del	ENSP00000484631.1:p.Pro122GlyfsTer?
ENST00000643451.2:c.*219_*220del	ENSP00000494628.1:n.*219_*220del
ENST00000644020.1:c.*73_*74del	ENSP00000496522.1:n.*73_*74del
ENST00000646419.2:c.*73_*74del	ENSP00000494871.1:n.*73_*74del
ENST00000674651.1:c.364_365del	ENSP00000501727.1:p.Pro122GlyfsTer?
ENST00000674673.1:c.364_365del	ENSP00000501804.1:p.Pro122GlyfsTer?
ENST00000674707.1:c.160_161del	ENSP00000502250.1:p.Pro54GlyfsTer?
ENST00000674868.1:c.364_365del	ENSP00000502835.1:p.Pro122GlyfsTer?
ENST00000674871.1:n.380_381del
ENST00000674947.1:c.353_354del	ENSP00000501580.1:p.Pro118ArgfsTer?
ENST00000675197.1:n.344_345del
ENST00000675350.1:c.364_365del	ENSP00000501557.1:p.Pro122GlyfsTer?
ENST00000675551.1:c.*33_*34del	ENSP00000501945.1:n.*33_*34del
ENST00000675808.1:c.364_365del	ENSP00000502310.1:p.Pro122GlyfsTer?
ENST00000675819.1:c.364_365del	ENSP00000502018.1:p.Pro122GlyfsTer?
ENST00000675854.1:c.160_161del	ENSP00000502324.1:p.Pro54GlyfsTer?
ENST00000675950.1:c.364_365del	ENSP00000501546.1:p.Pro122GlyfsTer?
ENST00000676002.1:n.357_358del
ENST00000676161.1:c.223_224del	ENSP00000501766.1:p.Pro75GlyfsTer?
ENST00000676221.1:c.364_365del	ENSP00000502601.1:p.Pro122GlyfsTer?
ENST00000676329.1:c.466_467del	ENSP00000501698.1:p.Pro156GlyfsTer?
ENST00000312280.7:c.364_365del	ENSP00000308937.3:p.Pro122GlyfsTer?
ENST00000395936.5:c.*73_*74del	ENSP00000379268.1:n.*73_*74del
ENST00000395938.6:c.364_365del	ENSP00000379269.2:p.Pro122GlyfsTer?
ENST00000494511.5:c.185_186del	ENSP00000462782.1:p.Pro62ArgfsTer?
ENST00000612492.4:c.364_365del	ENSP00000484631.1:p.Pro122GlyfsTer?
NM_000304.3:c.364_365del	NP_000295.1:p.Pro122GlyfsTer?
NM_001281455.1:c.364_365del	NP_001268384.1:p.Pro122GlyfsTer?
NM_001281456.1:c.364_365del	NP_001268385.1:p.Pro122GlyfsTer?
NM_153321.2:c.364_365del	NP_696996.1:p.Pro122GlyfsTer?
NM_153322.2:c.364_365del	NP_696997.1:p.Pro122GlyfsTer?
NR_104017.1:n.490_491del
NR_104018.1:n.390_391del
NM_000304.4:c.364_365del MANE Select	NP_000295.1:p.Pro122GlyfsTer?
NM_001281456.2:c.364_365del	NP_001268385.1:p.Pro122GlyfsTer?
NM_153321.3:c.364_365del	NP_696996.1:p.Pro122GlyfsTer?
NM_153322.3:c.364_365del	NP_696997.1:p.Pro122GlyfsTer?
NR_104017.2:n.459_460del
NR_104018.2:n.359_360del
NM_001281455.2:c.364_365del	NP_001268384.1:p.Pro122GlyfsTer?