Canonical Allele Identifier: CA2773213661
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866808_136866809insACA , CM000668.2:g.136866808_136866809insACA GRCh38
NC_000006.11:g.137187946_137187947insACA , CM000668.1:g.137187946_137187947insACA GRCh37
NC_000006.10:g.137229639_137229640insACA NCBI36
NG_008462.1:g.49229_49230insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+75_633+76insACA MANE Select ENSP00000315680.3:n.633+75_633+76insACA
ENST00000541292.6:c.633+75_633+76insACA ENSP00000441004.1:n.633+75_633+76insACA
ENST00000678002.1:c.321+75_321+76insACA
ENST00000678557.1:c.519+75_519+76insACA ENSP00000502962.1:n.519+75_519+76insACA
ENST00000678593.1:c.638+75_638+76insACA ENSP00000503841.1:n.638+75_638+76insACA
ENST00000679286.1:c.513+75_513+76insACA ENSP00000503168.1:n.513+75_513+76insACA
ENST00000318471.4:c.633+75_633+76insACA ENSP00000315680.3:n.633+75_633+76insACA
ENST00000541292.5:c.633+75_633+76insACA ENSP00000441004.1:n.633+75_633+76insACA
NM_000288.3:c.633+75_633+76insACA NP_000279.1:n.633+75_633+76insACA
XM_005267019.3:c.519+75_519+76insACA XP_005267076.1:n.519+75_519+76insACA
XM_006715502.1:c.340-3082_340-3081insACA XP_006715565.1:n.340-3082_340-3081insACA
XM_011535900.1:c.526+20627_526+20628insACA XP_011534202.1:n.526+20627_526+20628insACA
XM_005267019.4:c.519+75_519+76insACA XP_005267076.1:n.519+75_519+76insACA
XM_006715502.2:c.340-3082_340-3081insACA XP_006715565.1:n.340-3082_340-3081insACA
XM_017010934.2:c.526+20627_526+20628insACA XP_016866423.1:n.526+20627_526+20628insACA
NM_000288.4:c.633+75_633+76insACA MANE Select NP_000279.1:n.633+75_633+76insACA