Canonical Allele Identifier: CA2249497663

Gene: PMP22

Linked Data

• dbSNP Id: rs1906245291

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230855_15230856insCATCAGCCTCG , CM000679.2:g.15230855_15230856insCATCAGCCTCG	GRCh38
NC_000017.10:g.15134172_15134173insCATCAGCCTCG , CM000679.1:g.15134172_15134173insCATCAGCCTCG	GRCh37
NC_000017.9:g.15074897_15074898insCATCAGCCTCG	NCBI36
NG_007949.1:g.39472_39473insCGAGGCTGATG , LRG_263:g.39472_39473insCGAGGCTGATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.*61_*62insCGAGGCTGATG MANE Select	ENSP00000308937.3:n.*61_*62insCGAGGCTGATG...
ENST00000395936.7:c.*253_*254insCGAGGCTGATG	ENSP00000379268.1:n.*253_*254insCGAGGCTGA...
ENST00000395938.7:c.533_534insCGAGGCTGATG	ENSP00000379269.3:p.Gln178HisfsTer34
ENST00000494511.7:c.*61_*62insCGAGGCTGATG	ENSP00000462782.2:n.*61_*62insCGAGGCTGATG...
ENST00000580584.3:c.*61_*62insCGAGGCTGATG	ENSP00000464468.3:n.*61_*62insCGAGGCTGATG...
ENST00000612492.5:c.*61_*62insCGAGGCTGATG	ENSP00000484631.1:n.*61_*62insCGAGGCTGATG...
ENST00000643451.2:c.*399_*400insCGAGGCTGATG	ENSP00000494628.1:n.*399_*400insCGAGGCTGA...
ENST00000644020.1:c.*253_*254insCGAGGCTGATG	ENSP00000496522.1:n.*253_*254insCGAGGCTGA...
ENST00000646419.2:c.*253_*254insCGAGGCTGATG	ENSP00000494871.1:n.*253_*254insCGAGGCTGA...
ENST00000674651.1:c.*61_*62insCGAGGCTGATG	ENSP00000501727.1:n.*61_*62insCGAGGCTGATG...
ENST00000674673.1:c.*61_*62insCGAGGCTGATG	ENSP00000501804.1:n.*61_*62insCGAGGCTGATG...
ENST00000674707.1:c.*61_*62insCGAGGCTGATG	ENSP00000502250.1:n.*61_*62insCGAGGCTGATG...
ENST00000674868.1:c.*61_*62insCGAGGCTGATG	ENSP00000502835.1:n.*61_*62insCGAGGCTGATG...
ENST00000674871.1:n.560_561insCGAGGCTGATG
ENST00000674947.1:c.533_534insCGAGGCTGATG	ENSP00000501580.1:p.Gln178HisfsTer34
ENST00000675197.1:n.524_525insCGAGGCTGATG
ENST00000675350.1:c.*61_*62insCGAGGCTGATG	ENSP00000501557.1:n.*61_*62insCGAGGCTGATG...
ENST00000675551.1:c.*213_*214insCGAGGCTGATG	ENSP00000501945.1:n.*213_*214insCGAGGCTGA...
ENST00000675808.1:c.*61_*62insCGAGGCTGATG	ENSP00000502310.1:n.*61_*62insCGAGGCTGATG...
ENST00000675819.1:c.*61_*62insCGAGGCTGATG	ENSP00000502018.1:n.*61_*62insCGAGGCTGATG...
ENST00000675854.1:c.*61_*62insCGAGGCTGATG	ENSP00000502324.1:n.*61_*62insCGAGGCTGATG...
ENST00000675950.1:c.*61_*62insCGAGGCTGATG	ENSP00000501546.1:n.*61_*62insCGAGGCTGATG...
ENST00000676002.1:n.537_538insCGAGGCTGATG
ENST00000676161.1:c.*61_*62insCGAGGCTGATG	ENSP00000501766.1:n.*61_*62insCGAGGCTGATG...
ENST00000676221.1:c.*61_*62insCGAGGCTGATG	ENSP00000502601.1:n.*61_*62insCGAGGCTGATG...
ENST00000676329.1:c.*61_*62insCGAGGCTGATG	ENSP00000501698.1:n.*61_*62insCGAGGCTGATG...
ENST00000312280.7:c.*61_*62insCGAGGCTGATG	ENSP00000308937.3:n.*61_*62insCGAGGCTGATG...
ENST00000395936.5:c.*253_*254insCGAGGCTGATG	ENSP00000379268.1:n.*253_*254insCGAGGCTGA...
ENST00000395938.6:c.*61_*62insCGAGGCTGATG	ENSP00000379269.2:n.*61_*62insCGAGGCTGATG...
ENST00000494511.5:c.365_366insCGAGGCTGATG	ENSP00000462782.1:p.Gln122HisfsTer34
ENST00000612492.4:c.*61_*62insCGAGGCTGATG	ENSP00000484631.1:n.*61_*62insCGAGGCTGATG...
NM_000304.3:c.*61_*62insCGAGGCTGATG	NP_000295.1:n.*61_*62insCGAGGCTGATG
NM_001281455.1:c.*61_*62insCGAGGCTGATG	NP_001268384.1:n.*61_*62insCGAGGCTGATG
NM_001281456.1:c.*61_*62insCGAGGCTGATG	NP_001268385.1:n.*61_*62insCGAGGCTGATG
NM_153321.2:c.*61_*62insCGAGGCTGATG	NP_696996.1:n.*61_*62insCGAGGCTGATG
NM_153322.2:c.*61_*62insCGAGGCTGATG	NP_696997.1:n.*61_*62insCGAGGCTGATG
NR_104017.1:n.670_671insCGAGGCTGATG
NR_104018.1:n.570_571insCGAGGCTGATG
NM_000304.4:c.*61_*62insCGAGGCTGATG MANE Select	NP_000295.1:n.*61_*62insCGAGGCTGATG
NM_001281456.2:c.*61_*62insCGAGGCTGATG	NP_001268385.1:n.*61_*62insCGAGGCTGATG
NM_153321.3:c.*61_*62insCGAGGCTGATG	NP_696996.1:n.*61_*62insCGAGGCTGATG
NM_153322.3:c.*61_*62insCGAGGCTGATG	NP_696997.1:n.*61_*62insCGAGGCTGATG
NR_104017.2:n.639_640insCGAGGCTGATG
NR_104018.2:n.539_540insCGAGGCTGATG
NM_001281455.2:c.*61_*62insCGAGGCTGATG	NP_001268384.1:n.*61_*62insCGAGGCTGATG