Canonical Allele Identifier: CA2773213648
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866805_136866806insAG , CM000668.2:g.136866805_136866806insAG GRCh38
NC_000006.11:g.137187943_137187944insAG , CM000668.1:g.137187943_137187944insAG GRCh37
NC_000006.10:g.137229636_137229637insAG NCBI36
NG_008462.1:g.49226_49227insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+72_633+73insAG MANE Select ENSP00000315680.3:n.633+72_633+73insAG
ENST00000541292.6:c.633+72_633+73insAG ENSP00000441004.1:n.633+72_633+73insAG
ENST00000678002.1:c.321+72_321+73insAG
ENST00000678557.1:c.519+72_519+73insAG ENSP00000502962.1:n.519+72_519+73insAG
ENST00000678593.1:c.638+72_638+73insAG ENSP00000503841.1:n.638+72_638+73insAG
ENST00000679286.1:c.513+72_513+73insAG ENSP00000503168.1:n.513+72_513+73insAG
ENST00000318471.4:c.633+72_633+73insAG ENSP00000315680.3:n.633+72_633+73insAG
ENST00000541292.5:c.633+72_633+73insAG ENSP00000441004.1:n.633+72_633+73insAG
NM_000288.3:c.633+72_633+73insAG NP_000279.1:n.633+72_633+73insAG
XM_005267019.3:c.519+72_519+73insAG XP_005267076.1:n.519+72_519+73insAG
XM_006715502.1:c.340-3085_340-3084insAG XP_006715565.1:n.340-3085_340-3084insAG
XM_011535900.1:c.526+20624_526+20625insAG XP_011534202.1:n.526+20624_526+20625insAG
XM_005267019.4:c.519+72_519+73insAG XP_005267076.1:n.519+72_519+73insAG
XM_006715502.2:c.340-3085_340-3084insAG XP_006715565.1:n.340-3085_340-3084insAG
XM_017010934.2:c.526+20624_526+20625insAG XP_016866423.1:n.526+20624_526+20625insAG
NM_000288.4:c.633+72_633+73insAG MANE Select NP_000279.1:n.633+72_633+73insAG