Canonical Allele Identifier: CA2773214695
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872359_136872360insACAA , CM000668.2:g.136872359_136872360insACAA GRCh38
NC_000006.11:g.137193497_137193498insACAA , CM000668.1:g.137193497_137193498insACAA GRCh37
NC_000006.10:g.137235190_137235191insACAA NCBI36
NG_008462.1:g.54780_54781insACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.803+106_803+107insACAA MANE Select ENSP00000315680.3:n.803+106_803+107insACAA
ENST00000541292.6:c.*68+106_*68+107insACAA ENSP00000441004.1:n.*68+106_*68+107insACAA
ENST00000678002.1:c.491+106_491+107insACAA
ENST00000678557.1:c.689+106_689+107insACAA ENSP00000502962.1:n.689+106_689+107insACAA
ENST00000678593.1:c.914_915insACAA ENSP00000503841.1:n.914_915insACAA
ENST00000679286.1:c.683+106_683+107insACAA ENSP00000503168.1:n.683+106_683+107insACAA
ENST00000318471.4:c.803+106_803+107insACAA ENSP00000315680.3:n.803+106_803+107insACAA
NM_000288.3:c.803+106_803+107insACAA NP_000279.1:n.803+106_803+107insACAA
XM_005267019.3:c.689+106_689+107insACAA XP_005267076.1:n.689+106_689+107insACAA
XM_006715502.1:c.509+106_509+107insACAA XP_006715565.1:n.509+106_509+107insACAA
XM_011535900.1:c.527-25783_527-25782insACAA XP_011534202.1:n.527-25783_527-25782insACAA
XM_005267019.4:c.689+106_689+107insACAA XP_005267076.1:n.689+106_689+107insACAA
XM_006715502.2:c.509+106_509+107insACAA XP_006715565.1:n.509+106_509+107insACAA
XM_017010934.2:c.527-25783_527-25782insACAA XP_016866423.1:n.527-25783_527-25782insACAA
NM_000288.4:c.803+106_803+107insACAA MANE Select NP_000279.1:n.803+106_803+107insACAA