Canonical Allele Identifier: CA2773213643
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866804_136866805insACA , CM000668.2:g.136866804_136866805insACA GRCh38
NC_000006.11:g.137187942_137187943insACA , CM000668.1:g.137187942_137187943insACA GRCh37
NC_000006.10:g.137229635_137229636insACA NCBI36
NG_008462.1:g.49225_49226insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+71_633+72insACA MANE Select ENSP00000315680.3:n.633+71_633+72insACA
ENST00000541292.6:c.633+71_633+72insACA ENSP00000441004.1:n.633+71_633+72insACA
ENST00000678002.1:c.321+71_321+72insACA
ENST00000678557.1:c.519+71_519+72insACA ENSP00000502962.1:n.519+71_519+72insACA
ENST00000678593.1:c.638+71_638+72insACA ENSP00000503841.1:n.638+71_638+72insACA
ENST00000679286.1:c.513+71_513+72insACA ENSP00000503168.1:n.513+71_513+72insACA
ENST00000318471.4:c.633+71_633+72insACA ENSP00000315680.3:n.633+71_633+72insACA
ENST00000541292.5:c.633+71_633+72insACA ENSP00000441004.1:n.633+71_633+72insACA
NM_000288.3:c.633+71_633+72insACA NP_000279.1:n.633+71_633+72insACA
XM_005267019.3:c.519+71_519+72insACA XP_005267076.1:n.519+71_519+72insACA
XM_006715502.1:c.340-3086_340-3085insACA XP_006715565.1:n.340-3086_340-3085insACA
XM_011535900.1:c.526+20623_526+20624insACA XP_011534202.1:n.526+20623_526+20624insACA
XM_005267019.4:c.519+71_519+72insACA XP_005267076.1:n.519+71_519+72insACA
XM_006715502.2:c.340-3086_340-3085insACA XP_006715565.1:n.340-3086_340-3085insACA
XM_017010934.2:c.526+20623_526+20624insACA XP_016866423.1:n.526+20623_526+20624insACA
NM_000288.4:c.633+71_633+72insACA MANE Select NP_000279.1:n.633+71_633+72insACA