Canonical Allele Identifier: CA2773216376
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898399_136898402del , CM000668.2:g.136898399_136898402del GRCh38
NC_000006.11:g.137219537_137219540del , CM000668.1:g.137219537_137219540del GRCh37
NC_000006.10:g.137261230_137261233del NCBI36
NG_008462.1:g.80820_80823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+158_903+161del MANE Select ENSP00000315680.3:n.903+158_903+161del
ENST00000541292.6:c.*168+158_*168+161del ENSP00000441004.1:n.*168+158_*168+161del
ENST00000678002.1:c.591+158_591+161del
ENST00000678557.1:c.789+158_789+161del ENSP00000502962.1:n.789+158_789+161del
ENST00000679286.1:c.783+158_783+161del ENSP00000503168.1:n.783+158_783+161del
ENST00000318471.4:c.903+158_903+161del ENSP00000315680.3:n.903+158_903+161del
NM_000288.3:c.903+158_903+161del NP_000279.1:n.903+158_903+161del
XM_005267019.3:c.789+158_789+161del XP_005267076.1:n.789+158_789+161del
XM_006715502.1:c.609+158_609+161del XP_006715565.1:n.609+158_609+161del
XM_005267019.4:c.789+158_789+161del XP_005267076.1:n.789+158_789+161del
XM_006715502.2:c.609+158_609+161del XP_006715565.1:n.609+158_609+161del
XM_017010934.2:c.*26+158_*26+161del XP_016866423.1:n.*26+158_*26+161del
NM_000288.4:c.903+158_903+161del MANE Select NP_000279.1:n.903+158_903+161del