Canonical Allele Identifier: CA2773214707
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872366_136872368del , CM000668.2:g.136872366_136872368del GRCh38
NC_000006.11:g.137193504_137193506del , CM000668.1:g.137193504_137193506del GRCh37
NC_000006.10:g.137235197_137235199del NCBI36
NG_008462.1:g.54787_54789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.803+113_803+115del MANE Select ENSP00000315680.3:n.803+113_803+115del
ENST00000541292.6:c.*68+113_*68+115del ENSP00000441004.1:n.*68+113_*68+115del
ENST00000678002.1:c.491+113_491+115del
ENST00000678557.1:c.689+113_689+115del ENSP00000502962.1:n.689+113_689+115del
ENST00000678593.1:c.921_923del ENSP00000503841.1:n.921_923del
ENST00000679286.1:c.683+113_683+115del ENSP00000503168.1:n.683+113_683+115del
ENST00000318471.4:c.803+113_803+115del ENSP00000315680.3:n.803+113_803+115del
NM_000288.3:c.803+113_803+115del NP_000279.1:n.803+113_803+115del
XM_005267019.3:c.689+113_689+115del XP_005267076.1:n.689+113_689+115del
XM_006715502.1:c.509+113_509+115del XP_006715565.1:n.509+113_509+115del
XM_011535900.1:c.527-25776_527-25774del XP_011534202.1:n.527-25776_527-25774del
XM_005267019.4:c.689+113_689+115del XP_005267076.1:n.689+113_689+115del
XM_006715502.2:c.509+113_509+115del XP_006715565.1:n.509+113_509+115del
XM_017010934.2:c.527-25776_527-25774del XP_016866423.1:n.527-25776_527-25774del
NM_000288.4:c.803+113_803+115del MANE Select NP_000279.1:n.803+113_803+115del