Canonical Allele Identifier: CA2773213587
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866776_136866777insA , CM000668.2:g.136866776_136866777insA GRCh38
NC_000006.11:g.137187914_137187915insA , CM000668.1:g.137187914_137187915insA GRCh37
NC_000006.10:g.137229607_137229608insA NCBI36
NG_008462.1:g.49197_49198insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+43_633+44insA MANE Select ENSP00000315680.3:n.633+43_633+44insA
ENST00000541292.6:c.633+43_633+44insA ENSP00000441004.1:n.633+43_633+44insA
ENST00000678002.1:c.321+43_321+44insA
ENST00000678557.1:c.519+43_519+44insA ENSP00000502962.1:n.519+43_519+44insA
ENST00000678593.1:c.638+43_638+44insA ENSP00000503841.1:n.638+43_638+44insA
ENST00000679286.1:c.513+43_513+44insA ENSP00000503168.1:n.513+43_513+44insA
ENST00000318471.4:c.633+43_633+44insA ENSP00000315680.3:n.633+43_633+44insA
ENST00000541292.5:c.633+43_633+44insA ENSP00000441004.1:n.633+43_633+44insA
NM_000288.3:c.633+43_633+44insA NP_000279.1:n.633+43_633+44insA
XM_005267019.3:c.519+43_519+44insA XP_005267076.1:n.519+43_519+44insA
XM_006715502.1:c.340-3114_340-3113insA XP_006715565.1:n.340-3114_340-3113insA
XM_011535900.1:c.526+20595_526+20596insA XP_011534202.1:n.526+20595_526+20596insA
XM_005267019.4:c.519+43_519+44insA XP_005267076.1:n.519+43_519+44insA
XM_006715502.2:c.340-3114_340-3113insA XP_006715565.1:n.340-3114_340-3113insA
XM_017010934.2:c.526+20595_526+20596insA XP_016866423.1:n.526+20595_526+20596insA
NM_000288.4:c.633+43_633+44insA MANE Select NP_000279.1:n.633+43_633+44insA