Canonical Allele Identifier: CA2773216381
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898412del , CM000668.2:g.136898412del GRCh38
NC_000006.11:g.137219550del , CM000668.1:g.137219550del GRCh37
NC_000006.10:g.137261243del NCBI36
NG_008462.1:g.80833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+171del MANE Select ENSP00000315680.3:n.903+171del
ENST00000541292.6:c.*168+171del ENSP00000441004.1:n.*168+171del
ENST00000678002.1:c.591+171del
ENST00000678557.1:c.789+171del ENSP00000502962.1:n.789+171del
ENST00000679286.1:c.783+171del ENSP00000503168.1:n.783+171del
ENST00000318471.4:c.903+171del ENSP00000315680.3:n.903+171del
NM_000288.3:c.903+171del NP_000279.1:n.903+171del
XM_005267019.3:c.789+171del XP_005267076.1:n.789+171del
XM_006715502.1:c.609+171del XP_006715565.1:n.609+171del
XM_005267019.4:c.789+171del XP_005267076.1:n.789+171del
XM_006715502.2:c.609+171del XP_006715565.1:n.609+171del
XM_017010934.2:c.*26+171del XP_016866423.1:n.*26+171del
NM_000288.4:c.903+171del MANE Select NP_000279.1:n.903+171del