Canonical Allele Identifier: CA2249497651

Gene: PMP22

Linked Data

• dbSNP Id: rs1906244802

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230854_15230855insTTATGTTGA , CM000679.2:g.15230854_15230855insTTATGTTGA	GRCh38
NC_000017.10:g.15134171_15134172insTTATGTTGA , CM000679.1:g.15134171_15134172insTTATGTTGA	GRCh37
NC_000017.9:g.15074896_15074897insTTATGTTGA	NCBI36
NG_007949.1:g.39473_39474insTCAACATAA , LRG_263:g.39473_39474insTCAACATAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.*62_*63insTCAACATAA MANE Select	ENSP00000308937.3:n.*62_*63insTCAACATAA
ENST00000395936.7:c.*254_*255insTCAACATAA	ENSP00000379268.1:n.*254_*255insTCAACATAA...
ENST00000395938.7:c.534_535insTCAACATAA
ENST00000494511.7:c.*62_*63insTCAACATAA	ENSP00000462782.2:n.*62_*63insTCAACATAA
ENST00000580584.3:c.*62_*63insTCAACATAA	ENSP00000464468.3:n.*62_*63insTCAACATAA
ENST00000612492.5:c.*62_*63insTCAACATAA	ENSP00000484631.1:n.*62_*63insTCAACATAA
ENST00000643451.2:c.*400_*401insTCAACATAA	ENSP00000494628.1:n.*400_*401insTCAACATAA...
ENST00000644020.1:c.*254_*255insTCAACATAA	ENSP00000496522.1:n.*254_*255insTCAACATAA...
ENST00000646419.2:c.*254_*255insTCAACATAA	ENSP00000494871.1:n.*254_*255insTCAACATAA...
ENST00000674651.1:c.*62_*63insTCAACATAA	ENSP00000501727.1:n.*62_*63insTCAACATAA
ENST00000674673.1:c.*62_*63insTCAACATAA	ENSP00000501804.1:n.*62_*63insTCAACATAA
ENST00000674707.1:c.*62_*63insTCAACATAA	ENSP00000502250.1:n.*62_*63insTCAACATAA
ENST00000674868.1:c.*62_*63insTCAACATAA	ENSP00000502835.1:n.*62_*63insTCAACATAA
ENST00000674871.1:n.561_562insTCAACATAA
ENST00000674947.1:c.534_535insTCAACATAA
ENST00000675197.1:n.525_526insTCAACATAA
ENST00000675350.1:c.*62_*63insTCAACATAA	ENSP00000501557.1:n.*62_*63insTCAACATAA
ENST00000675551.1:c.*214_*215insTCAACATAA	ENSP00000501945.1:n.*214_*215insTCAACATAA...
ENST00000675808.1:c.*62_*63insTCAACATAA	ENSP00000502310.1:n.*62_*63insTCAACATAA
ENST00000675819.1:c.*62_*63insTCAACATAA	ENSP00000502018.1:n.*62_*63insTCAACATAA
ENST00000675854.1:c.*62_*63insTCAACATAA	ENSP00000502324.1:n.*62_*63insTCAACATAA
ENST00000675950.1:c.*62_*63insTCAACATAA	ENSP00000501546.1:n.*62_*63insTCAACATAA
ENST00000676002.1:n.538_539insTCAACATAA
ENST00000676161.1:c.*62_*63insTCAACATAA	ENSP00000501766.1:n.*62_*63insTCAACATAA
ENST00000676221.1:c.*62_*63insTCAACATAA	ENSP00000502601.1:n.*62_*63insTCAACATAA
ENST00000676329.1:c.*62_*63insTCAACATAA	ENSP00000501698.1:n.*62_*63insTCAACATAA
ENST00000312280.7:c.*62_*63insTCAACATAA	ENSP00000308937.3:n.*62_*63insTCAACATAA
ENST00000395936.5:c.*254_*255insTCAACATAA	ENSP00000379268.1:n.*254_*255insTCAACATAA...
ENST00000395938.6:c.*62_*63insTCAACATAA	ENSP00000379269.2:n.*62_*63insTCAACATAA
ENST00000494511.5:c.366_367insTCAACATAA
ENST00000612492.4:c.*62_*63insTCAACATAA	ENSP00000484631.1:n.*62_*63insTCAACATAA
NM_000304.3:c.*62_*63insTCAACATAA	NP_000295.1:n.*62_*63insTCAACATAA
NM_001281455.1:c.*62_*63insTCAACATAA	NP_001268384.1:n.*62_*63insTCAACATAA
NM_001281456.1:c.*62_*63insTCAACATAA	NP_001268385.1:n.*62_*63insTCAACATAA
NM_153321.2:c.*62_*63insTCAACATAA	NP_696996.1:n.*62_*63insTCAACATAA
NM_153322.2:c.*62_*63insTCAACATAA	NP_696997.1:n.*62_*63insTCAACATAA
NR_104017.1:n.671_672insTCAACATAA
NR_104018.1:n.571_572insTCAACATAA
NM_000304.4:c.*62_*63insTCAACATAA MANE Select	NP_000295.1:n.*62_*63insTCAACATAA
NM_001281456.2:c.*62_*63insTCAACATAA	NP_001268385.1:n.*62_*63insTCAACATAA
NM_153321.3:c.*62_*63insTCAACATAA	NP_696996.1:n.*62_*63insTCAACATAA
NM_153322.3:c.*62_*63insTCAACATAA	NP_696997.1:n.*62_*63insTCAACATAA
NR_104017.2:n.640_641insTCAACATAA
NR_104018.2:n.540_541insTCAACATAA
NM_001281455.2:c.*62_*63insTCAACATAA	NP_001268384.1:n.*62_*63insTCAACATAA