Canonical Allele Identifier: CA2518305562
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826302_136826303insC , CM000668.2:g.136826302_136826303insC GRCh38
NC_000006.11:g.137147440_137147441insC , CM000668.1:g.137147440_137147441insC GRCh37
NC_000006.10:g.137189133_137189134insC NCBI36
NG_008462.1:g.8723_8724insC

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.189-17_189-16insC MANE Select ENSP00000315680.3:n.189-17_189-16insC
ENST00000541292.6:c.189-17_189-16insC ENSP00000441004.1:n.189-17_189-16insC
ENST00000678002.1:c.59-12_59-11insC
ENST00000678557.1:c.75-17_75-16insC ENSP00000502962.1:n.75-17_75-16insC
ENST00000678593.1:c.189-12_189-11insC ENSP00000503841.1:n.189-12_189-11insC
ENST00000679286.1:c.69-17_69-16insC ENSP00000503168.1:n.69-17_69-16insC
ENST00000318471.4:c.189-17_189-16insC ENSP00000315680.3:n.189-17_189-16insC
ENST00000367756.8:c.189-17_189-16insC ENSP00000356730.4:n.189-17_189-16insC
ENST00000541292.5:c.189-17_189-16insC ENSP00000441004.1:n.189-17_189-16insC
NM_000288.3:c.189-17_189-16insC NP_000279.1:n.189-17_189-16insC
XM_005267019.3:c.75-17_75-16insC XP_005267076.1:n.75-17_75-16insC
XM_006715502.1:c.189-17_189-16insC XP_006715565.1:n.189-17_189-16insC
XM_011535900.1:c.189-17_189-16insC XP_011534202.1:n.189-17_189-16insC
XM_005267019.4:c.75-17_75-16insC XP_005267076.1:n.75-17_75-16insC
XM_006715502.2:c.189-17_189-16insC XP_006715565.1:n.189-17_189-16insC
XM_017010934.2:c.189-17_189-16insC XP_016866423.1:n.189-17_189-16insC
NM_000288.4:c.189-17_189-16insC MANE Select NP_000279.1:n.189-17_189-16insC