Canonical Allele Identifier: CA2636216253

Gene: PMP22

Linked Data

• gnomAD v4: 17-15230847-TCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.15230848_15230851del , CM000679.2:g.15230848_15230851del	GRCh38
NC_000017.10:g.15134165_15134168del , CM000679.1:g.15134165_15134168del	GRCh37
NC_000017.9:g.15074890_15074893del	NCBI36
NG_007949.1:g.39477_39480del , LRG_263:g.39477_39480del

Transcript Alleles

HGVS	Amino-acid change
ENST00000312280.9:c.*66_*69del MANE Select	ENSP00000308937.3:n.*66_*69del
ENST00000395936.7:c.*258_*261del	ENSP00000379268.1:n.*258_*261del
ENST00000395938.7:c.538_541del	ENSP00000379269.3:p.Ala180ThrfsTer27
ENST00000494511.7:c.*66_*69del	ENSP00000462782.2:n.*66_*69del
ENST00000580584.3:c.*66_*69del	ENSP00000464468.3:n.*66_*69del
ENST00000612492.5:c.*66_*69del	ENSP00000484631.1:n.*66_*69del
ENST00000643451.2:c.*404_*407del	ENSP00000494628.1:n.*404_*407del
ENST00000644020.1:c.*258_*261del	ENSP00000496522.1:n.*258_*261del
ENST00000646419.2:c.*258_*261del	ENSP00000494871.1:n.*258_*261del
ENST00000674651.1:c.*66_*69del	ENSP00000501727.1:n.*66_*69del
ENST00000674673.1:c.*66_*69del	ENSP00000501804.1:n.*66_*69del
ENST00000674707.1:c.*66_*69del	ENSP00000502250.1:n.*66_*69del
ENST00000674868.1:c.*66_*69del	ENSP00000502835.1:n.*66_*69del
ENST00000674871.1:n.565_568del
ENST00000674947.1:c.538_541del	ENSP00000501580.1:p.Ala180ThrfsTer27
ENST00000675197.1:n.529_532del
ENST00000675350.1:c.*66_*69del	ENSP00000501557.1:n.*66_*69del
ENST00000675551.1:c.*218_*221del	ENSP00000501945.1:n.*218_*221del
ENST00000675808.1:c.*66_*69del	ENSP00000502310.1:n.*66_*69del
ENST00000675819.1:c.*66_*69del	ENSP00000502018.1:n.*66_*69del
ENST00000675854.1:c.*66_*69del	ENSP00000502324.1:n.*66_*69del
ENST00000675950.1:c.*66_*69del	ENSP00000501546.1:n.*66_*69del
ENST00000676002.1:n.542_545del
ENST00000676161.1:c.*66_*69del	ENSP00000501766.1:n.*66_*69del
ENST00000676221.1:c.*66_*69del	ENSP00000502601.1:n.*66_*69del
ENST00000676329.1:c.*66_*69del	ENSP00000501698.1:n.*66_*69del
ENST00000312280.7:c.*66_*69del	ENSP00000308937.3:n.*66_*69del
ENST00000395936.5:c.*258_*261del	ENSP00000379268.1:n.*258_*261del
ENST00000395938.6:c.*66_*69del	ENSP00000379269.2:n.*66_*69del
ENST00000494511.5:c.370_373del	ENSP00000462782.1:p.Ala124ThrfsTer27
ENST00000612492.4:c.*66_*69del	ENSP00000484631.1:n.*66_*69del
NM_000304.3:c.*66_*69del	NP_000295.1:n.*66_*69del
NM_001281455.1:c.*66_*69del	NP_001268384.1:n.*66_*69del
NM_001281456.1:c.*66_*69del	NP_001268385.1:n.*66_*69del
NM_153321.2:c.*66_*69del	NP_696996.1:n.*66_*69del
NM_153322.2:c.*66_*69del	NP_696997.1:n.*66_*69del
NR_104017.1:n.675_678del
NR_104018.1:n.575_578del
NM_000304.4:c.*66_*69del MANE Select	NP_000295.1:n.*66_*69del
NM_001281456.2:c.*66_*69del	NP_001268385.1:n.*66_*69del
NM_153321.3:c.*66_*69del	NP_696996.1:n.*66_*69del
NM_153322.3:c.*66_*69del	NP_696997.1:n.*66_*69del
NR_104017.2:n.644_647del
NR_104018.2:n.544_547del
NM_001281455.2:c.*66_*69del	NP_001268384.1:n.*66_*69del