Canonical Allele Identifier: CA2773213580
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866771_136866772insAG , CM000668.2:g.136866771_136866772insAG GRCh38
NC_000006.11:g.137187909_137187910insAG , CM000668.1:g.137187909_137187910insAG GRCh37
NC_000006.10:g.137229602_137229603insAG NCBI36
NG_008462.1:g.49192_49193insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+38_633+39insAG MANE Select ENSP00000315680.3:n.633+38_633+39insAG
ENST00000541292.6:c.633+38_633+39insAG ENSP00000441004.1:n.633+38_633+39insAG
ENST00000678002.1:c.321+38_321+39insAG
ENST00000678557.1:c.519+38_519+39insAG ENSP00000502962.1:n.519+38_519+39insAG
ENST00000678593.1:c.638+38_638+39insAG ENSP00000503841.1:n.638+38_638+39insAG
ENST00000679286.1:c.513+38_513+39insAG ENSP00000503168.1:n.513+38_513+39insAG
ENST00000318471.4:c.633+38_633+39insAG ENSP00000315680.3:n.633+38_633+39insAG
ENST00000541292.5:c.633+38_633+39insAG ENSP00000441004.1:n.633+38_633+39insAG
NM_000288.3:c.633+38_633+39insAG NP_000279.1:n.633+38_633+39insAG
XM_005267019.3:c.519+38_519+39insAG XP_005267076.1:n.519+38_519+39insAG
XM_006715502.1:c.340-3119_340-3118insAG XP_006715565.1:n.340-3119_340-3118insAG
XM_011535900.1:c.526+20590_526+20591insAG XP_011534202.1:n.526+20590_526+20591insAG
XM_005267019.4:c.519+38_519+39insAG XP_005267076.1:n.519+38_519+39insAG
XM_006715502.2:c.340-3119_340-3118insAG XP_006715565.1:n.340-3119_340-3118insAG
XM_017010934.2:c.526+20590_526+20591insAG XP_016866423.1:n.526+20590_526+20591insAG
NM_000288.4:c.633+38_633+39insAG MANE Select NP_000279.1:n.633+38_633+39insAG