Canonical Allele Identifier: CA2680490637
Gene: PEX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872134_136872136del , CM000668.2:g.136872134_136872136del GRCh38
NC_000006.11:g.137193272_137193274del , CM000668.1:g.137193272_137193274del GRCh37
NC_000006.10:g.137234965_137234967del NCBI36
NG_008462.1:g.54555_54557del

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-64_748-62del MANE Select ENSP00000315680.3:n.748-64_748-62del
ENST00000541292.6:c.*13-64_*13-62del ENSP00000441004.1:n.*13-64_*13-62del
ENST00000678002.1:c.436-64_436-62del
ENST00000678557.1:c.634-64_634-62del ENSP00000502962.1:n.634-64_634-62del
ENST00000678593.1:c.753-64_753-62del ENSP00000503841.1:n.753-64_753-62del
ENST00000679286.1:c.628-64_628-62del ENSP00000503168.1:n.628-64_628-62del
ENST00000318471.4:c.748-64_748-62del ENSP00000315680.3:n.748-64_748-62del
NM_000288.3:c.748-64_748-62del NP_000279.1:n.748-64_748-62del
XM_005267019.3:c.634-64_634-62del XP_005267076.1:n.634-64_634-62del
XM_006715502.1:c.454-64_454-62del XP_006715565.1:n.454-64_454-62del
XM_011535900.1:c.526+25953_526+25955del XP_011534202.1:n.526+25953_526+25955del
XM_005267019.4:c.634-64_634-62del XP_005267076.1:n.634-64_634-62del
XM_006715502.2:c.454-64_454-62del XP_006715565.1:n.454-64_454-62del
XM_017010934.2:c.526+25953_526+25955del XP_016866423.1:n.526+25953_526+25955del
NM_000288.4:c.748-64_748-62del MANE Select NP_000279.1:n.748-64_748-62del