Canonical Allele Identifier: CA2497184229
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1775191776

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872099_136872101del , CM000668.2:g.136872099_136872101del GRCh38
NC_000006.11:g.137193237_137193239del , CM000668.1:g.137193237_137193239del GRCh37
NC_000006.10:g.137234930_137234932del NCBI36
NG_008462.1:g.54520_54522del

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-99_748-97del MANE Select ENSP00000315680.3:n.748-99_748-97del
ENST00000541292.6:c.*13-99_*13-97del ENSP00000441004.1:n.*13-99_*13-97del
ENST00000678002.1:c.436-99_436-97del
ENST00000678557.1:c.634-99_634-97del ENSP00000502962.1:n.634-99_634-97del
ENST00000678593.1:c.753-99_753-97del ENSP00000503841.1:n.753-99_753-97del
ENST00000679286.1:c.628-99_628-97del ENSP00000503168.1:n.628-99_628-97del
ENST00000318471.4:c.748-99_748-97del ENSP00000315680.3:n.748-99_748-97del
NM_000288.3:c.748-99_748-97del NP_000279.1:n.748-99_748-97del
XM_005267019.3:c.634-99_634-97del XP_005267076.1:n.634-99_634-97del
XM_006715502.1:c.454-99_454-97del XP_006715565.1:n.454-99_454-97del
XM_011535900.1:c.526+25918_526+25920del XP_011534202.1:n.526+25918_526+25920del
XM_005267019.4:c.634-99_634-97del XP_005267076.1:n.634-99_634-97del
XM_006715502.2:c.454-99_454-97del XP_006715565.1:n.454-99_454-97del
XM_017010934.2:c.526+25918_526+25920del XP_016866423.1:n.526+25918_526+25920del
NM_000288.4:c.748-99_748-97del MANE Select NP_000279.1:n.748-99_748-97del