Canonical Allele Identifier: CA2773216362
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898383_136898384insC , CM000668.2:g.136898383_136898384insC GRCh38
NC_000006.11:g.137219521_137219522insC , CM000668.1:g.137219521_137219522insC GRCh37
NC_000006.10:g.137261214_137261215insC NCBI36
NG_008462.1:g.80804_80805insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.903+142_903+143insC MANE Select ENSP00000315680.3:n.903+142_903+143insC
ENST00000541292.6:c.*168+142_*168+143insC ENSP00000441004.1:n.*168+142_*168+143insC
ENST00000678002.1:c.591+142_591+143insC
ENST00000678557.1:c.789+142_789+143insC ENSP00000502962.1:n.789+142_789+143insC
ENST00000679286.1:c.783+142_783+143insC ENSP00000503168.1:n.783+142_783+143insC
ENST00000318471.4:c.903+142_903+143insC ENSP00000315680.3:n.903+142_903+143insC
NM_000288.3:c.903+142_903+143insC NP_000279.1:n.903+142_903+143insC
XM_005267019.3:c.789+142_789+143insC XP_005267076.1:n.789+142_789+143insC
XM_006715502.1:c.609+142_609+143insC XP_006715565.1:n.609+142_609+143insC
XM_005267019.4:c.789+142_789+143insC XP_005267076.1:n.789+142_789+143insC
XM_006715502.2:c.609+142_609+143insC XP_006715565.1:n.609+142_609+143insC
XM_017010934.2:c.*26+142_*26+143insC XP_016866423.1:n.*26+142_*26+143insC
NM_000288.4:c.903+142_903+143insC MANE Select NP_000279.1:n.903+142_903+143insC