Canonical Allele Identifier: CA259755

Gene: PMP22

Linked Data

• ClinVar Variation Id: 30158
• ClinVar RCV Id: RCV000023074 ; RCV000790158 ; RCV000755044 ; RCV001388384 ; RCV001507376
• dbSNP Id: rs80338763
• MyVariant Identifiers: chr17:g.15142826del (hg19) ; chr17:g.15239509del (hg38)
• PubMed: PMID:19067730

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15239514del , CM000679.2:g.15239514del	GRCh38
NC_000017.10:g.15142831del , CM000679.1:g.15142831del	GRCh37
NC_000017.9:g.15083556del	NCBI36
NG_007949.1:g.30819del , LRG_263:g.30819del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.281del MANE Select	ENSP00000308937.3:p.Gly94AlafsTer17
ENST00000395936.7:c.281del	ENSP00000379268.1:p.Gly94AlafsTer?
ENST00000395938.7:c.270del	ENSP00000379269.3:p.Gln91ArgfsTer?
ENST00000426385.4:c.281del	ENSP00000409824.3:p.Gly94AlafsTer19
ENST00000494511.7:c.77del	ENSP00000462782.2:p.Gly26AlafsTer17
ENST00000580584.3:c.77del	ENSP00000464468.3:p.Gly26AlafsTer17
ENST00000612492.5:c.281del	ENSP00000484631.1:p.Gly94AlafsTer17
ENST00000643451.2:c.281del	ENSP00000494628.1:p.Gly94AlafsTer18
ENST00000644020.1:c.281del	ENSP00000496522.1:p.Gly94AlafsTer?
ENST00000646419.2:c.281del	ENSP00000494871.1:p.Gly94AlafsTer?
ENST00000674651.1:c.281del	ENSP00000501727.1:p.Gly94AlafsTer17
ENST00000674673.1:c.281del	ENSP00000501804.1:p.Gly94AlafsTer17
ENST00000674707.1:c.77del	ENSP00000502250.1:p.Gly26AlafsTer17
ENST00000674868.1:c.281del	ENSP00000502835.1:p.Gly94AlafsTer17
ENST00000674871.1:n.297del
ENST00000674947.1:c.270del	ENSP00000501580.1:p.Gln91ArgfsTer?
ENST00000675197.1:n.261del
ENST00000675350.1:c.281del	ENSP00000501557.1:p.Gly94AlafsTer17
ENST00000675551.1:c.281del	ENSP00000501945.1:p.Gly94AlafsTer20
ENST00000675808.1:c.281del	ENSP00000502310.1:p.Gly94AlafsTer17
ENST00000675819.1:c.281del	ENSP00000502018.1:p.Gly94AlafsTer17
ENST00000675854.1:c.77del	ENSP00000502324.1:p.Gly26AlafsTer17
ENST00000675950.1:c.281del	ENSP00000501546.1:p.Gly94AlafsTer17
ENST00000676161.1:c.179-8429del	ENSP00000501766.1:n.179-8429del
ENST00000676221.1:c.281del	ENSP00000502601.1:p.Gly94AlafsTer17
ENST00000676329.1:c.383del	ENSP00000501698.1:p.Gly128AlafsTer17
ENST00000312280.7:c.281del	ENSP00000308937.3:p.Gly94AlafsTer17
ENST00000395936.5:c.281del	ENSP00000379268.1:p.Gly94AlafsTer?
ENST00000395938.6:c.281del	ENSP00000379269.2:p.Gly94AlafsTer17
ENST00000426385.3:c.281del	ENSP00000409824.3:p.Gly94AlafsTer19
ENST00000494511.5:c.102del	ENSP00000462782.1:p.Gln35ArgfsTer?
ENST00000580584.1:c.102del	ENSP00000464468.1:p.Gln35ArgfsTer?
ENST00000612492.4:c.281del	ENSP00000484631.1:p.Gly94AlafsTer17
NM_000304.3:c.281del	NP_000295.1:p.Gly94AlafsTer17
NM_001281455.1:c.281del	NP_001268384.1:p.Gly94AlafsTer17
NM_001281456.1:c.281del	NP_001268385.1:p.Gly94AlafsTer17
NM_153321.2:c.281del	NP_696996.1:p.Gly94AlafsTer17
NM_153322.2:c.281del	NP_696997.1:p.Gly94AlafsTer17
NR_104017.1:n.407del
NR_104018.1:n.307del
XM_011523943.1:c.281del	XP_011522245.1:p.Gly94AlafsTer?
NM_001330143.1:c.281del	NP_001317072.1:p.Gly94AlafsTer?
XM_024450806.1:c.281del	XP_024306574.1:p.Gly94AlafsTer?
NM_000304.4:c.281del MANE Select	NP_000295.1:p.Gly94AlafsTer17
NM_001281456.2:c.281del	NP_001268385.1:p.Gly94AlafsTer17
NM_001330143.2:c.281del	NP_001317072.1:p.Gly94AlafsTer?
NM_153321.3:c.281del	NP_696996.1:p.Gly94AlafsTer17
NM_153322.3:c.281del	NP_696997.1:p.Gly94AlafsTer17
NR_104017.2:n.376del
NR_104018.2:n.276del
NM_001281455.2:c.281del	NP_001268384.1:p.Gly94AlafsTer17