Canonical Allele Identifier: CA2636216364

Gene: PMP22

Linked Data

• gnomAD v4: 17-15231211-GGTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15231212_15231215del , CM000679.2:g.15231212_15231215del	GRCh38
NC_000017.10:g.15134529_15134532del , CM000679.1:g.15134529_15134532del	GRCh37
NC_000017.9:g.15075254_15075257del	NCBI36
NG_007949.1:g.39113_39116del , LRG_263:g.39113_39116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.320-135_320-132del MANE Select	ENSP00000308937.3:n.320-135_320-132del
ENST00000395936.7:c.*29-135_*29-132del	ENSP00000379268.1:n.*29-135_*29-132del
ENST00000395938.7:c.309-135_309-132del	ENSP00000379269.3:n.309-135_309-132del
ENST00000494511.7:c.116-135_116-132del	ENSP00000462782.2:n.116-135_116-132del
ENST00000580584.3:c.116-135_116-132del	ENSP00000464468.3:n.116-135_116-132del
ENST00000612492.5:c.320-135_320-132del	ENSP00000484631.1:n.320-135_320-132del
ENST00000643451.2:c.*175-135_*175-132del	ENSP00000494628.1:n.*175-135_*175-132del
ENST00000644020.1:c.*29-135_*29-132del	ENSP00000496522.1:n.*29-135_*29-132del
ENST00000646419.2:c.*29-135_*29-132del	ENSP00000494871.1:n.*29-135_*29-132del
ENST00000674651.1:c.320-135_320-132del	ENSP00000501727.1:n.320-135_320-132del
ENST00000674673.1:c.320-135_320-132del	ENSP00000501804.1:n.320-135_320-132del
ENST00000674707.1:c.116-135_116-132del	ENSP00000502250.1:n.116-135_116-132del
ENST00000674868.1:c.320-135_320-132del	ENSP00000502835.1:n.320-135_320-132del
ENST00000674871.1:n.336-135_336-132del
ENST00000674947.1:c.309-135_309-132del	ENSP00000501580.1:n.309-135_309-132del
ENST00000675197.1:n.300-135_300-132del
ENST00000675350.1:c.320-135_320-132del	ENSP00000501557.1:n.320-135_320-132del
ENST00000675551.1:c.487-135_487-132del	ENSP00000501945.1:n.487-135_487-132del
ENST00000675808.1:c.320-135_320-132del	ENSP00000502310.1:n.320-135_320-132del
ENST00000675819.1:c.320-135_320-132del	ENSP00000502018.1:n.320-135_320-132del
ENST00000675854.1:c.116-135_116-132del	ENSP00000502324.1:n.116-135_116-132del
ENST00000675950.1:c.320-135_320-132del	ENSP00000501546.1:n.320-135_320-132del
ENST00000676002.1:n.313-135_313-132del
ENST00000676161.1:c.179-135_179-132del	ENSP00000501766.1:n.179-135_179-132del
ENST00000676221.1:c.320-135_320-132del	ENSP00000502601.1:n.320-135_320-132del
ENST00000676329.1:c.422-135_422-132del	ENSP00000501698.1:n.422-135_422-132del
ENST00000312280.7:c.320-135_320-132del	ENSP00000308937.3:n.320-135_320-132del
ENST00000395936.5:c.*29-135_*29-132del	ENSP00000379268.1:n.*29-135_*29-132del
ENST00000395938.6:c.320-135_320-132del	ENSP00000379269.2:n.320-135_320-132del
ENST00000494511.5:c.141-135_141-132del	ENSP00000462782.1:n.141-135_141-132del
ENST00000580584.1:c.141-135_141-132del	ENSP00000464468.1:n.141-135_141-132del
ENST00000612492.4:c.320-135_320-132del	ENSP00000484631.1:n.320-135_320-132del
NM_000304.3:c.320-135_320-132del	NP_000295.1:n.320-135_320-132del
NM_001281455.1:c.320-135_320-132del	NP_001268384.1:n.320-135_320-132del
NM_001281456.1:c.320-135_320-132del	NP_001268385.1:n.320-135_320-132del
NM_153321.2:c.320-135_320-132del	NP_696996.1:n.320-135_320-132del
NM_153322.2:c.320-135_320-132del	NP_696997.1:n.320-135_320-132del
NR_104017.1:n.446-135_446-132del
NR_104018.1:n.346-135_346-132del
NM_000304.4:c.320-135_320-132del MANE Select	NP_000295.1:n.320-135_320-132del
NM_001281456.2:c.320-135_320-132del	NP_001268385.1:n.320-135_320-132del
NM_153321.3:c.320-135_320-132del	NP_696996.1:n.320-135_320-132del
NM_153322.3:c.320-135_320-132del	NP_696997.1:n.320-135_320-132del
NR_104017.2:n.415-135_415-132del
NR_104018.2:n.315-135_315-132del
NM_001281455.2:c.320-135_320-132del	NP_001268384.1:n.320-135_320-132del