Canonical Allele Identifier: CA2249522867

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15261025G= , CM000679.2:g.15261025G=	GRCh38
NC_000017.10:g.15164342G= , CM000679.1:g.15164342G=	GRCh37
NC_000017.9:g.15105067G=	NCBI36
NG_007949.1:g.9303C= , LRG_263:g.9303C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-264C= MANE Select	ENSP00000308937.3:n.-34-264C=
ENST00000395936.7:c.-34-264C=	ENSP00000379268.1:n.-34-264C=
ENST00000395938.7:c.-34-264C=	ENSP00000379269.3:n.-34-264C=
ENST00000426385.4:c.-34-264C=	ENSP00000409824.3:n.-34-264C=
ENST00000471150.3:n.156-264C=
ENST00000494511.7:c.-27+4129C=	ENSP00000462782.2:n.-27+4129C=
ENST00000580584.3:c.-126-1832C=	ENSP00000464468.3:n.-126-1832C=
ENST00000612492.5:c.-30-268C=	ENSP00000484631.1:n.-30-268C=
ENST00000643451.2:c.-34-264C=	ENSP00000494628.1:n.-34-264C=
ENST00000646419.2:c.-34-264C=	ENSP00000494871.1:n.-34-264C=
ENST00000674651.1:c.-35+213C=	ENSP00000501727.1:n.-35+213C=
ENST00000674673.1:c.-34-264C=	ENSP00000501804.1:n.-34-264C=
ENST00000674707.1:c.-27+1404C=	ENSP00000502250.1:n.-27+1404C=
ENST00000674868.1:c.-34-264C=	ENSP00000502835.1:n.-34-264C=
ENST00000675350.1:c.-34-264C=	ENSP00000501557.1:n.-34-264C=
ENST00000675808.1:c.-256-42C=	ENSP00000502310.1:n.-256-42C=
ENST00000675819.1:c.-34-264C=	ENSP00000502018.1:n.-34-264C=
ENST00000675854.1:c.-127+1404C=	ENSP00000502324.1:n.-127+1404C=
ENST00000675950.1:c.-34-264C=	ENSP00000501546.1:n.-34-264C=
ENST00000676161.1:c.-34-264C=	ENSP00000501766.1:n.-34-264C=
ENST00000676221.1:c.-30-268C=	ENSP00000502601.1:n.-30-268C=
ENST00000312280.7:c.-34-264C=	ENSP00000308937.3:n.-34-264C=
ENST00000395936.5:c.-34-264C=	ENSP00000379268.1:n.-34-264C=
ENST00000395938.6:c.-34-264C=	ENSP00000379269.2:n.-34-264C=
ENST00000426385.3:c.-34-264C=	ENSP00000409824.3:n.-34-264C=
ENST00000471150.2:n.156-264C=
ENST00000494511.5:c.-2+4129C=	ENSP00000462782.1:n.-2+4129C=
ENST00000580584.1:c.-101-1832C=	ENSP00000464468.1:n.-101-1832C=
ENST00000612492.4:c.-34-264C=	ENSP00000484631.1:n.-34-264C=
NM_000304.3:c.-34-264C=	NP_000295.1:n.-34-264C=
NM_001281455.1:c.-34-264C=	NP_001268384.1:n.-34-264C=
NM_001281456.1:c.-30-268C=	NP_001268385.1:n.-30-268C=
NM_153321.2:c.-34-264C=	NP_696996.1:n.-34-264C=
NR_104017.1:n.205-1832C=
NR_104018.1:n.204+4129C=
XM_011523943.1:c.-34-264C=	XP_011522245.1:n.-34-264C=
NM_001330143.1:c.-34-264C=	NP_001317072.1:n.-34-264C=
XM_024450806.1:c.-34-264C=	XP_024306574.1:n.-34-264C=
NM_000304.4:c.-34-264C= MANE Select	NP_000295.1:n.-34-264C=
NM_001281456.2:c.-30-268C=	NP_001268385.1:n.-30-268C=
NM_001330143.2:c.-34-264C=	NP_001317072.1:n.-34-264C=
NM_153321.3:c.-34-264C=	NP_696996.1:n.-34-264C=
NR_104017.2:n.174-1832C=
NR_104018.2:n.173+4129C=
NM_001281455.2:c.-34-264C=	NP_001268384.1:n.-34-264C=