Canonical Allele Identifier: CA2636216256

Gene: PMP22

Linked Data

• gnomAD v4: 17-15230860-TTCCCTTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230869_15230876del , CM000679.2:g.15230869_15230876del	GRCh38
NC_000017.10:g.15134186_15134193del , CM000679.1:g.15134186_15134193del	GRCh37
NC_000017.9:g.15074911_15074918del	NCBI36
NG_007949.1:g.39460_39467del , LRG_263:g.39460_39467del

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.*49_*56del MANE Select	ENSP00000308937.3:n.*49_*56del
ENST00000395936.7:c.*241_*248del	ENSP00000379268.1:n.*241_*248del
ENST00000395938.7:c.521_528del	ENSP00000379269.3:p.Arg174LysfsTer11
ENST00000494511.7:c.*49_*56del	ENSP00000462782.2:n.*49_*56del
ENST00000580584.3:c.*49_*56del	ENSP00000464468.3:n.*49_*56del
ENST00000612492.5:c.*49_*56del	ENSP00000484631.1:n.*49_*56del
ENST00000643451.2:c.*387_*394del	ENSP00000494628.1:n.*387_*394del
ENST00000644020.1:c.*241_*248del	ENSP00000496522.1:n.*241_*248del
ENST00000646419.2:c.*241_*248del	ENSP00000494871.1:n.*241_*248del
ENST00000674651.1:c.*49_*56del	ENSP00000501727.1:n.*49_*56del
ENST00000674673.1:c.*49_*56del	ENSP00000501804.1:n.*49_*56del
ENST00000674707.1:c.*49_*56del	ENSP00000502250.1:n.*49_*56del
ENST00000674868.1:c.*49_*56del	ENSP00000502835.1:n.*49_*56del
ENST00000674871.1:n.548_555del
ENST00000674947.1:c.521_528del	ENSP00000501580.1:p.Arg174LysfsTer11
ENST00000675197.1:n.512_519del
ENST00000675350.1:c.*49_*56del	ENSP00000501557.1:n.*49_*56del
ENST00000675551.1:c.*201_*208del	ENSP00000501945.1:n.*201_*208del
ENST00000675808.1:c.*49_*56del	ENSP00000502310.1:n.*49_*56del
ENST00000675819.1:c.*49_*56del	ENSP00000502018.1:n.*49_*56del
ENST00000675854.1:c.*49_*56del	ENSP00000502324.1:n.*49_*56del
ENST00000675950.1:c.*49_*56del	ENSP00000501546.1:n.*49_*56del
ENST00000676002.1:n.525_532del
ENST00000676161.1:c.*49_*56del	ENSP00000501766.1:n.*49_*56del
ENST00000676221.1:c.*49_*56del	ENSP00000502601.1:n.*49_*56del
ENST00000676329.1:c.*49_*56del	ENSP00000501698.1:n.*49_*56del
ENST00000312280.7:c.*49_*56del	ENSP00000308937.3:n.*49_*56del
ENST00000395936.5:c.*241_*248del	ENSP00000379268.1:n.*241_*248del
ENST00000395938.6:c.*49_*56del	ENSP00000379269.2:n.*49_*56del
ENST00000494511.5:c.353_360del	ENSP00000462782.1:p.Arg118LysfsTer11
ENST00000612492.4:c.*49_*56del	ENSP00000484631.1:n.*49_*56del
NM_000304.3:c.*49_*56del	NP_000295.1:n.*49_*56del
NM_001281455.1:c.*49_*56del	NP_001268384.1:n.*49_*56del
NM_001281456.1:c.*49_*56del	NP_001268385.1:n.*49_*56del
NM_153321.2:c.*49_*56del	NP_696996.1:n.*49_*56del
NM_153322.2:c.*49_*56del	NP_696997.1:n.*49_*56del
NR_104017.1:n.658_665del
NR_104018.1:n.558_565del
NM_000304.4:c.*49_*56del MANE Select	NP_000295.1:n.*49_*56del
NM_001281456.2:c.*49_*56del	NP_001268385.1:n.*49_*56del
NM_153321.3:c.*49_*56del	NP_696996.1:n.*49_*56del
NM_153322.3:c.*49_*56del	NP_696997.1:n.*49_*56del
NR_104017.2:n.627_634del
NR_104018.2:n.527_534del
NM_001281455.2:c.*49_*56del	NP_001268384.1:n.*49_*56del