Canonical Allele Identifier: CA2249522419

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260826G= , CM000679.2:g.15260826G=	GRCh38
NC_000017.10:g.15164143G= , CM000679.1:g.15164143G=	GRCh37
NC_000017.9:g.15104868G=	NCBI36
NG_007949.1:g.9502C= , LRG_263:g.9502C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-65C= MANE Select	ENSP00000308937.3:n.-34-65C=
ENST00000395936.7:c.-34-65C=	ENSP00000379268.1:n.-34-65C=
ENST00000395938.7:c.-34-65C=	ENSP00000379269.3:n.-34-65C=
ENST00000426385.4:c.-34-65C=	ENSP00000409824.3:n.-34-65C=
ENST00000471150.3:n.156-65C=
ENST00000494511.7:c.-27+4328C=	ENSP00000462782.2:n.-27+4328C=
ENST00000580584.3:c.-126-1633C=	ENSP00000464468.3:n.-126-1633C=
ENST00000612492.5:c.-30-69C=	ENSP00000484631.1:n.-30-69C=
ENST00000643451.2:c.-34-65C=	ENSP00000494628.1:n.-34-65C=
ENST00000646419.2:c.-34-65C=	ENSP00000494871.1:n.-34-65C=
ENST00000674651.1:c.-34-65C=	ENSP00000501727.1:n.-34-65C=
ENST00000674673.1:c.-34-65C=	ENSP00000501804.1:n.-34-65C=
ENST00000674707.1:c.-27+1603C=	ENSP00000502250.1:n.-27+1603C=
ENST00000674868.1:c.-34-65C=	ENSP00000502835.1:n.-34-65C=
ENST00000675350.1:c.-34-65C=	ENSP00000501557.1:n.-34-65C=
ENST00000675808.1:c.-99C=	ENSP00000502310.1:n.-99C=
ENST00000675819.1:c.-34-65C=	ENSP00000502018.1:n.-34-65C=
ENST00000675854.1:c.-127+1603C=	ENSP00000502324.1:n.-127+1603C=
ENST00000675950.1:c.-34-65C=	ENSP00000501546.1:n.-34-65C=
ENST00000676161.1:c.-34-65C=	ENSP00000501766.1:n.-34-65C=
ENST00000676221.1:c.-30-69C=	ENSP00000502601.1:n.-30-69C=
ENST00000312280.7:c.-34-65C=	ENSP00000308937.3:n.-34-65C=
ENST00000395936.5:c.-34-65C=	ENSP00000379268.1:n.-34-65C=
ENST00000395938.6:c.-34-65C=	ENSP00000379269.2:n.-34-65C=
ENST00000426385.3:c.-34-65C=	ENSP00000409824.3:n.-34-65C=
ENST00000471150.2:n.156-65C=
ENST00000494511.5:c.-2+4328C=	ENSP00000462782.1:n.-2+4328C=
ENST00000580584.1:c.-101-1633C=	ENSP00000464468.1:n.-101-1633C=
ENST00000612492.4:c.-34-65C=	ENSP00000484631.1:n.-34-65C=
NM_000304.3:c.-34-65C=	NP_000295.1:n.-34-65C=
NM_001281455.1:c.-34-65C=	NP_001268384.1:n.-34-65C=
NM_001281456.1:c.-30-69C=	NP_001268385.1:n.-30-69C=
NM_153321.2:c.-34-65C=	NP_696996.1:n.-34-65C=
NM_153322.2:c.-99C=	NP_696997.1:n.-99C=
NR_104017.1:n.205-1633C=
NR_104018.1:n.204+4328C=
XM_011523943.1:c.-34-65C=	XP_011522245.1:n.-34-65C=
NM_001330143.1:c.-34-65C=	NP_001317072.1:n.-34-65C=
XM_024450806.1:c.-34-65C=	XP_024306574.1:n.-34-65C=
NM_000304.4:c.-34-65C= MANE Select	NP_000295.1:n.-34-65C=
NM_001281456.2:c.-30-69C=	NP_001268385.1:n.-30-69C=
NM_001330143.2:c.-34-65C=	NP_001317072.1:n.-34-65C=
NM_153321.3:c.-34-65C=	NP_696996.1:n.-34-65C=
NR_104017.2:n.174-1633C=
NR_104018.2:n.173+4328C=
NM_001281455.2:c.-34-65C=	NP_001268384.1:n.-34-65C=