Canonical Allele Identifier: CA2497184227
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1775191042

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872056_136872057del , CM000668.2:g.136872056_136872057del GRCh38
NC_000006.11:g.137193194_137193195del , CM000668.1:g.137193194_137193195del GRCh37
NC_000006.10:g.137234887_137234888del NCBI36
NG_008462.1:g.54477_54478del

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-142_748-141del MANE Select ENSP00000315680.3:n.748-142_748-141del
ENST00000541292.6:c.*13-142_*13-141del ENSP00000441004.1:n.*13-142_*13-141del
ENST00000678002.1:c.436-142_436-141del
ENST00000678557.1:c.634-142_634-141del ENSP00000502962.1:n.634-142_634-141del
ENST00000678593.1:c.753-142_753-141del ENSP00000503841.1:n.753-142_753-141del
ENST00000679286.1:c.628-142_628-141del ENSP00000503168.1:n.628-142_628-141del
ENST00000318471.4:c.748-142_748-141del ENSP00000315680.3:n.748-142_748-141del
NM_000288.3:c.748-142_748-141del NP_000279.1:n.748-142_748-141del
XM_005267019.3:c.634-142_634-141del XP_005267076.1:n.634-142_634-141del
XM_006715502.1:c.454-142_454-141del XP_006715565.1:n.454-142_454-141del
XM_011535900.1:c.526+25875_526+25876del XP_011534202.1:n.526+25875_526+25876del
XM_005267019.4:c.634-142_634-141del XP_005267076.1:n.634-142_634-141del
XM_006715502.2:c.454-142_454-141del XP_006715565.1:n.454-142_454-141del
XM_017010934.2:c.526+25875_526+25876del XP_016866423.1:n.526+25875_526+25876del
NM_000288.4:c.748-142_748-141del MANE Select NP_000279.1:n.748-142_748-141del