Canonical Allele Identifier: CA4017733
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs553085940

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872171dup , CM000668.2:g.136872171dup GRCh38
NC_000006.11:g.137193309dup , CM000668.1:g.137193309dup GRCh37
NC_000006.10:g.137235002dup NCBI36
NG_008462.1:g.54592dup

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.748-27dup MANE Select ENSP00000315680.3:n.748-27dup
ENST00000541292.6:c.*13-27dup ENSP00000441004.1:n.*13-27dup
ENST00000678002.1:c.436-27dup
ENST00000678557.1:c.634-27dup ENSP00000502962.1:n.634-27dup
ENST00000678593.1:c.753-27dup ENSP00000503841.1:n.753-27dup
ENST00000679286.1:c.628-27dup ENSP00000503168.1:n.628-27dup
ENST00000318471.4:c.748-27dup ENSP00000315680.3:n.748-27dup
NM_000288.3:c.748-27dup NP_000279.1:n.748-27dup
XM_005267019.3:c.634-27dup XP_005267076.1:n.634-27dup
XM_006715502.1:c.454-27dup XP_006715565.1:n.454-27dup
XM_011535900.1:c.527-25971dup XP_011534202.1:n.527-25971dup
XM_005267019.4:c.634-27dup XP_005267076.1:n.634-27dup
XM_006715502.2:c.454-27dup XP_006715565.1:n.454-27dup
XM_017010934.2:c.527-25971dup XP_016866423.1:n.527-25971dup
NM_000288.4:c.748-27dup MANE Select NP_000279.1:n.748-27dup