Canonical Allele Identifier: CA2773214709
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872366_136872370del , CM000668.2:g.136872366_136872370del GRCh38
NC_000006.11:g.137193504_137193508del , CM000668.1:g.137193504_137193508del GRCh37
NC_000006.10:g.137235197_137235201del NCBI36
NG_008462.1:g.54787_54791del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.803+113_803+117del MANE Select ENSP00000315680.3:n.803+113_803+117del
ENST00000541292.6:c.*68+113_*68+117del ENSP00000441004.1:n.*68+113_*68+117del
ENST00000678002.1:c.491+113_491+117del
ENST00000678557.1:c.689+113_689+117del ENSP00000502962.1:n.689+113_689+117del
ENST00000678593.1:c.921_925del ENSP00000503841.1:n.921_925del
ENST00000679286.1:c.683+113_683+117del ENSP00000503168.1:n.683+113_683+117del
ENST00000318471.4:c.803+113_803+117del ENSP00000315680.3:n.803+113_803+117del
NM_000288.3:c.803+113_803+117del NP_000279.1:n.803+113_803+117del
XM_005267019.3:c.689+113_689+117del XP_005267076.1:n.689+113_689+117del
XM_006715502.1:c.509+113_509+117del XP_006715565.1:n.509+113_509+117del
XM_011535900.1:c.527-25776_527-25772del XP_011534202.1:n.527-25776_527-25772del
XM_005267019.4:c.689+113_689+117del XP_005267076.1:n.689+113_689+117del
XM_006715502.2:c.509+113_509+117del XP_006715565.1:n.509+113_509+117del
XM_017010934.2:c.527-25776_527-25772del XP_016866423.1:n.527-25776_527-25772del
NM_000288.4:c.803+113_803+117del MANE Select NP_000279.1:n.803+113_803+117del