Canonical Allele Identifier: CA2497183945
Gene: PEX7 HGNC NCBI

Linked Data

dbSNP Id: rs1774190206

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826298dup , CM000668.2:g.136826298dup GRCh38
NC_000006.11:g.137147436dup , CM000668.1:g.137147436dup GRCh37
NC_000006.10:g.137189129dup NCBI36
NG_008462.1:g.8719dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.189-21dup MANE Select ENSP00000315680.3:n.189-21dup
ENST00000541292.6:c.189-21dup ENSP00000441004.1:n.189-21dup
ENST00000678002.1:c.59-16dup
ENST00000678557.1:c.75-21dup ENSP00000502962.1:n.75-21dup
ENST00000678593.1:c.189-16dup ENSP00000503841.1:n.189-16dup
ENST00000679286.1:c.69-21dup ENSP00000503168.1:n.69-21dup
ENST00000318471.4:c.189-21dup ENSP00000315680.3:n.189-21dup
ENST00000367756.8:c.189-21dup ENSP00000356730.4:n.189-21dup
ENST00000541292.5:c.189-21dup ENSP00000441004.1:n.189-21dup
NM_000288.3:c.189-21dup NP_000279.1:n.189-21dup
XM_005267019.3:c.75-21dup XP_005267076.1:n.75-21dup
XM_006715502.1:c.189-21dup XP_006715565.1:n.189-21dup
XM_011535900.1:c.189-21dup XP_011534202.1:n.189-21dup
XM_005267019.4:c.75-21dup XP_005267076.1:n.75-21dup
XM_006715502.2:c.189-21dup XP_006715565.1:n.189-21dup
XM_017010934.2:c.189-21dup XP_016866423.1:n.189-21dup
NM_000288.4:c.189-21dup MANE Select NP_000279.1:n.189-21dup