Canonical Allele Identifier: CA2249523080

Gene: PMP22

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15261169_15261170delinsGA , CM000679.2:g.15261169_15261170delinsGA	GRCh38
NC_000017.10:g.15164486_15164487delinsGA , CM000679.1:g.15164486_15164487delinsGA	GRCh37
NC_000017.9:g.15105211_15105212delinsGA	NCBI36
NG_007949.1:g.9158_9159delinsTC , LRG_263:g.9158_9159delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000312280.9:c.-34-409_-34-408delinsTC MANE Select	ENSP00000308937.3:n.-34-409_-34-408delinsTC
ENST00000395936.7:c.-34-409_-34-408delinsTC	ENSP00000379268.1:n.-34-409_-34-408delinsTC
ENST00000395938.7:c.-34-409_-34-408delinsTC	ENSP00000379269.3:n.-34-409_-34-408delinsTC
ENST00000426385.4:c.-34-409_-34-408delinsTC	ENSP00000409824.3:n.-34-409_-34-408delinsTC
ENST00000471150.3:n.156-409_156-408delinsTC
ENST00000494511.7:c.-27+3984_-27+3985delinsTC	ENSP00000462782.2:n.-27+3984_-27+3985delinsTC
ENST00000580584.3:c.-126-1977_-126-1976delinsTC	ENSP00000464468.3:n.-126-1977_-126-1976delinsTC
ENST00000612492.5:c.-30-413_-30-412delinsTC	ENSP00000484631.1:n.-30-413_-30-412delinsTC
ENST00000643451.2:c.-34-409_-34-408delinsTC	ENSP00000494628.1:n.-34-409_-34-408delinsTC
ENST00000646419.2:c.-34-409_-34-408delinsTC	ENSP00000494871.1:n.-34-409_-34-408delinsTC
ENST00000674651.1:c.-35+68_-35+69delinsTC	ENSP00000501727.1:n.-35+68_-35+69delinsTC
ENST00000674673.1:c.-34-409_-34-408delinsTC	ENSP00000501804.1:n.-34-409_-34-408delinsTC
ENST00000674707.1:c.-27+1259_-27+1260delinsTC	ENSP00000502250.1:n.-27+1259_-27+1260delinsTC
ENST00000674868.1:c.-34-409_-34-408delinsTC	ENSP00000502835.1:n.-34-409_-34-408delinsTC
ENST00000675350.1:c.-34-409_-34-408delinsTC	ENSP00000501557.1:n.-34-409_-34-408delinsTC
ENST00000675808.1:c.-256-187_-256-186delinsTC	ENSP00000502310.1:n.-256-187_-256-186delinsTC
ENST00000675819.1:c.-34-409_-34-408delinsTC	ENSP00000502018.1:n.-34-409_-34-408delinsTC
ENST00000675854.1:c.-127+1259_-127+1260delinsTC	ENSP00000502324.1:n.-127+1259_-127+1260delinsTC
ENST00000675950.1:c.-34-409_-34-408delinsTC	ENSP00000501546.1:n.-34-409_-34-408delinsTC
ENST00000676161.1:c.-34-409_-34-408delinsTC	ENSP00000501766.1:n.-34-409_-34-408delinsTC
ENST00000676221.1:c.-30-413_-30-412delinsTC	ENSP00000502601.1:n.-30-413_-30-412delinsTC
ENST00000312280.7:c.-34-409_-34-408delinsTC	ENSP00000308937.3:n.-34-409_-34-408delinsTC
ENST00000395936.5:c.-34-409_-34-408delinsTC	ENSP00000379268.1:n.-34-409_-34-408delinsTC
ENST00000395938.6:c.-34-409_-34-408delinsTC	ENSP00000379269.2:n.-34-409_-34-408delinsTC
ENST00000426385.3:c.-34-409_-34-408delinsTC	ENSP00000409824.3:n.-34-409_-34-408delinsTC
ENST00000471150.2:n.156-409_156-408delinsTC
ENST00000494511.5:c.-2+3984_-2+3985delinsTC	ENSP00000462782.1:n.-2+3984_-2+3985delinsTC
ENST00000580584.1:c.-101-1977_-101-1976delinsTC	ENSP00000464468.1:n.-101-1977_-101-1976delinsTC
ENST00000612492.4:c.-34-409_-34-408delinsTC	ENSP00000484631.1:n.-34-409_-34-408delinsTC
NM_000304.3:c.-34-409_-34-408delinsTC	NP_000295.1:n.-34-409_-34-408delinsTC
NM_001281455.1:c.-34-409_-34-408delinsTC	NP_001268384.1:n.-34-409_-34-408delinsTC
NM_001281456.1:c.-30-413_-30-412delinsTC	NP_001268385.1:n.-30-413_-30-412delinsTC
NM_153321.2:c.-34-409_-34-408delinsTC	NP_696996.1:n.-34-409_-34-408delinsTC
NR_104017.1:n.205-1977_205-1976delinsTC
NR_104018.1:n.204+3984_204+3985delinsTC
XM_011523943.1:c.-34-409_-34-408delinsTC	XP_011522245.1:n.-34-409_-34-408delinsTC
NM_001330143.1:c.-34-409_-34-408delinsTC	NP_001317072.1:n.-34-409_-34-408delinsTC
XM_024450806.1:c.-34-409_-34-408delinsTC	XP_024306574.1:n.-34-409_-34-408delinsTC
NM_000304.4:c.-34-409_-34-408delinsTC MANE Select	NP_000295.1:n.-34-409_-34-408delinsTC
NM_001281456.2:c.-30-413_-30-412delinsTC	NP_001268385.1:n.-30-413_-30-412delinsTC
NM_001330143.2:c.-34-409_-34-408delinsTC	NP_001317072.1:n.-34-409_-34-408delinsTC
NM_153321.3:c.-34-409_-34-408delinsTC	NP_696996.1:n.-34-409_-34-408delinsTC
NR_104017.2:n.174-1977_174-1976delinsTC
NR_104018.2:n.173+3984_173+3985delinsTC
NM_001281455.2:c.-34-409_-34-408delinsTC	NP_001268384.1:n.-34-409_-34-408delinsTC