Canonical Allele Identifier: CA2573054328
Gene: PMP22 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500122
ClinVar RCV Id: RCV003224766
dbSNP Id: rs2150664583

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.15230969_15230989del , CM000679.2:g.15230969_15230989del GRCh38
NC_000017.10:g.15134286_15134306del , CM000679.1:g.15134286_15134306del GRCh37
NC_000017.9:g.15075011_15075031del NCBI36
NG_007949.1:g.39346_39366del , LRG_263:g.39346_39366del

Transcript Alleles

HGVS Amino-acid change
ENST00000312280.9:c.418_438del MANE Select ENSP00000308937.3:p.Trp140_Ala146del
ENST00000395936.7:c.*127_*147del ENSP00000379268.1:n.*127_*147del
ENST00000395938.7:c.407_427del ENSP00000379269.3:p.Leu136_Gly142del
ENST00000494511.7:c.214_234del ENSP00000462782.2:p.Trp72_Ala78del
ENST00000580584.3:c.214_234del ENSP00000464468.3:p.Trp72_Ala78del
ENST00000612492.5:c.418_438del ENSP00000484631.1:p.Trp140_Ala146del
ENST00000643451.2:c.*273_*293del ENSP00000494628.1:n.*273_*293del
ENST00000644020.1:c.*127_*147del ENSP00000496522.1:n.*127_*147del
ENST00000646419.2:c.*127_*147del ENSP00000494871.1:n.*127_*147del
ENST00000674651.1:c.418_438del ENSP00000501727.1:p.Trp140_Ala146del
ENST00000674673.1:c.418_438del ENSP00000501804.1:p.Trp140_Ala146del
ENST00000674707.1:c.214_234del ENSP00000502250.1:p.Trp72_Ala78del
ENST00000674868.1:c.418_438del ENSP00000502835.1:p.Trp140_Ala146del
ENST00000674871.1:n.434_454del
ENST00000674947.1:c.407_427del ENSP00000501580.1:p.Leu136_Gly142del
ENST00000675197.1:n.398_418del
ENST00000675350.1:c.418_438del ENSP00000501557.1:p.Trp140_Ala146del
ENST00000675551.1:c.*87_*107del ENSP00000501945.1:n.*87_*107del
ENST00000675808.1:c.418_438del ENSP00000502310.1:p.Trp140_Ala146del
ENST00000675819.1:c.418_438del ENSP00000502018.1:p.Trp140_Ala146del
ENST00000675854.1:c.214_234del ENSP00000502324.1:p.Trp72_Ala78del
ENST00000675950.1:c.418_438del ENSP00000501546.1:p.Trp140_Ala146del
ENST00000676002.1:n.411_431del
ENST00000676161.1:c.277_297del ENSP00000501766.1:p.Trp93_Ala99del
ENST00000676221.1:c.418_438del ENSP00000502601.1:p.Trp140_Ala146del
ENST00000676329.1:c.520_540del ENSP00000501698.1:p.Trp174_Ala180del
ENST00000312280.7:c.418_438del ENSP00000308937.3:p.Trp140_Ala146del
ENST00000395936.5:c.*127_*147del ENSP00000379268.1:n.*127_*147del
ENST00000395938.6:c.418_438del ENSP00000379269.2:p.Trp140_Ala146del
ENST00000494511.5:c.239_259del ENSP00000462782.1:p.Leu80_Gly86del
ENST00000612492.4:c.418_438del ENSP00000484631.1:p.Trp140_Ala146del
NM_000304.3:c.418_438del NP_000295.1:p.Trp140_Ala146del
NM_001281455.1:c.418_438del NP_001268384.1:p.Trp140_Ala146del
NM_001281456.1:c.418_438del NP_001268385.1:p.Trp140_Ala146del
NM_153321.2:c.418_438del NP_696996.1:p.Trp140_Ala146del
NM_153322.2:c.418_438del NP_696997.1:p.Trp140_Ala146del
NR_104017.1:n.544_564del
NR_104018.1:n.444_464del
NM_000304.4:c.418_438del MANE Select NP_000295.1:p.Trp140_Ala146del
NM_001281456.2:c.418_438del NP_001268385.1:p.Trp140_Ala146del
NM_153321.3:c.418_438del NP_696996.1:p.Trp140_Ala146del
NM_153322.3:c.418_438del NP_696997.1:p.Trp140_Ala146del
NR_104017.2:n.513_533del
NR_104018.2:n.413_433del
NM_001281455.2:c.418_438del NP_001268384.1:p.Trp140_Ala146del