Canonical Allele Identifier: CA2773213570
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866759_136866760insACA , CM000668.2:g.136866759_136866760insACA GRCh38
NC_000006.11:g.137187897_137187898insACA , CM000668.1:g.137187897_137187898insACA GRCh37
NC_000006.10:g.137229590_137229591insACA NCBI36
NG_008462.1:g.49180_49181insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+26_633+27insACA MANE Select ENSP00000315680.3:n.633+26_633+27insACA
ENST00000541292.6:c.633+26_633+27insACA ENSP00000441004.1:n.633+26_633+27insACA
ENST00000678002.1:c.321+26_321+27insACA
ENST00000678557.1:c.519+26_519+27insACA ENSP00000502962.1:n.519+26_519+27insACA
ENST00000678593.1:c.638+26_638+27insACA ENSP00000503841.1:n.638+26_638+27insACA
ENST00000679286.1:c.513+26_513+27insACA ENSP00000503168.1:n.513+26_513+27insACA
ENST00000318471.4:c.633+26_633+27insACA ENSP00000315680.3:n.633+26_633+27insACA
ENST00000541292.5:c.633+26_633+27insACA ENSP00000441004.1:n.633+26_633+27insACA
NM_000288.3:c.633+26_633+27insACA NP_000279.1:n.633+26_633+27insACA
XM_005267019.3:c.519+26_519+27insACA XP_005267076.1:n.519+26_519+27insACA
XM_006715502.1:c.340-3131_340-3130insACA XP_006715565.1:n.340-3131_340-3130insACA
XM_011535900.1:c.526+20578_526+20579insACA XP_011534202.1:n.526+20578_526+20579insACA
XM_005267019.4:c.519+26_519+27insACA XP_005267076.1:n.519+26_519+27insACA
XM_006715502.2:c.340-3131_340-3130insACA XP_006715565.1:n.340-3131_340-3130insACA
XM_017010934.2:c.526+20578_526+20579insACA XP_016866423.1:n.526+20578_526+20579insACA
NM_000288.4:c.633+26_633+27insACA MANE Select NP_000279.1:n.633+26_633+27insACA