Canonical Allele Identifier: CA2249522296

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15260779G= , CM000679.2:g.15260779G=	GRCh38
NC_000017.10:g.15164096G= , CM000679.1:g.15164096G=	GRCh37
NC_000017.9:g.15104821G=	NCBI36
NG_007949.1:g.9549C= , LRG_263:g.9549C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-18C= MANE Select	ENSP00000308937.3:n.-34-18C=
ENST00000395936.7:c.-34-18C=	ENSP00000379268.1:n.-34-18C=
ENST00000395938.7:c.-34-18C=	ENSP00000379269.3:n.-34-18C=
ENST00000426385.4:c.-34-18C=	ENSP00000409824.3:n.-34-18C=
ENST00000471150.3:n.156-18C=
ENST00000494511.7:c.-27+4375C=	ENSP00000462782.2:n.-27+4375C=
ENST00000580584.3:c.-126-1586C=	ENSP00000464468.3:n.-126-1586C=
ENST00000612492.5:c.-30-22C=	ENSP00000484631.1:n.-30-22C=
ENST00000643451.2:c.-34-18C=	ENSP00000494628.1:n.-34-18C=
ENST00000644020.1:c.-52C=	ENSP00000496522.1:n.-52C=
ENST00000646419.2:c.-34-18C=	ENSP00000494871.1:n.-34-18C=
ENST00000674651.1:c.-34-18C=	ENSP00000501727.1:n.-34-18C=
ENST00000674673.1:c.-34-18C=	ENSP00000501804.1:n.-34-18C=
ENST00000674707.1:c.-27+1650C=	ENSP00000502250.1:n.-27+1650C=
ENST00000674868.1:c.-34-18C=	ENSP00000502835.1:n.-34-18C=
ENST00000674947.1:c.-52C=	ENSP00000501580.1:n.-52C=
ENST00000675350.1:c.-34-18C=	ENSP00000501557.1:n.-34-18C=
ENST00000675808.1:c.-52C=	ENSP00000502310.1:n.-52C=
ENST00000675819.1:c.-34-18C=	ENSP00000502018.1:n.-34-18C=
ENST00000675854.1:c.-126-1586C=	ENSP00000502324.1:n.-126-1586C=
ENST00000675950.1:c.-34-18C=	ENSP00000501546.1:n.-34-18C=
ENST00000676161.1:c.-34-18C=	ENSP00000501766.1:n.-34-18C=
ENST00000676221.1:c.-30-22C=	ENSP00000502601.1:n.-30-22C=
ENST00000312280.7:c.-34-18C=	ENSP00000308937.3:n.-34-18C=
ENST00000395936.5:c.-34-18C=	ENSP00000379268.1:n.-34-18C=
ENST00000395938.6:c.-34-18C=	ENSP00000379269.2:n.-34-18C=
ENST00000426385.3:c.-34-18C=	ENSP00000409824.3:n.-34-18C=
ENST00000471150.2:n.156-18C=
ENST00000494511.5:c.-2+4375C=	ENSP00000462782.1:n.-2+4375C=
ENST00000580584.1:c.-101-1586C=	ENSP00000464468.1:n.-101-1586C=
ENST00000612492.4:c.-34-18C=	ENSP00000484631.1:n.-34-18C=
NM_000304.3:c.-34-18C=	NP_000295.1:n.-34-18C=
NM_001281455.1:c.-34-18C=	NP_001268384.1:n.-34-18C=
NM_001281456.1:c.-30-22C=	NP_001268385.1:n.-30-22C=
NM_153321.2:c.-34-18C=	NP_696996.1:n.-34-18C=
NM_153322.2:c.-52C=	NP_696997.1:n.-52C=
NR_104017.1:n.205-1586C=
NR_104018.1:n.204+4375C=
XM_011523943.1:c.-34-18C=	XP_011522245.1:n.-34-18C=
NM_001330143.1:c.-34-18C=	NP_001317072.1:n.-34-18C=
XM_024450806.1:c.-34-18C=	XP_024306574.1:n.-34-18C=
NM_000304.4:c.-34-18C= MANE Select	NP_000295.1:n.-34-18C=
NM_001281456.2:c.-30-22C=	NP_001268385.1:n.-30-22C=
NM_001330143.2:c.-34-18C=	NP_001317072.1:n.-34-18C=
NM_153321.3:c.-34-18C=	NP_696996.1:n.-34-18C=
NM_153322.3:c.-52C=	NP_696997.1:n.-52C=
NR_104017.2:n.174-1586C=
NR_104018.2:n.173+4375C=
NM_001281455.2:c.-34-18C=	NP_001268384.1:n.-34-18C=