Canonical Allele Identifier: CA2773213573
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866761_136866762insA , CM000668.2:g.136866761_136866762insA GRCh38
NC_000006.11:g.137187899_137187900insA , CM000668.1:g.137187899_137187900insA GRCh37
NC_000006.10:g.137229592_137229593insA NCBI36
NG_008462.1:g.49182_49183insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+28_633+29insA MANE Select ENSP00000315680.3:n.633+28_633+29insA
ENST00000541292.6:c.633+28_633+29insA ENSP00000441004.1:n.633+28_633+29insA
ENST00000678002.1:c.321+28_321+29insA
ENST00000678557.1:c.519+28_519+29insA ENSP00000502962.1:n.519+28_519+29insA
ENST00000678593.1:c.638+28_638+29insA ENSP00000503841.1:n.638+28_638+29insA
ENST00000679286.1:c.513+28_513+29insA ENSP00000503168.1:n.513+28_513+29insA
ENST00000318471.4:c.633+28_633+29insA ENSP00000315680.3:n.633+28_633+29insA
ENST00000541292.5:c.633+28_633+29insA ENSP00000441004.1:n.633+28_633+29insA
NM_000288.3:c.633+28_633+29insA NP_000279.1:n.633+28_633+29insA
XM_005267019.3:c.519+28_519+29insA XP_005267076.1:n.519+28_519+29insA
XM_006715502.1:c.340-3129_340-3128insA XP_006715565.1:n.340-3129_340-3128insA
XM_011535900.1:c.526+20580_526+20581insA XP_011534202.1:n.526+20580_526+20581insA
XM_005267019.4:c.519+28_519+29insA XP_005267076.1:n.519+28_519+29insA
XM_006715502.2:c.340-3129_340-3128insA XP_006715565.1:n.340-3129_340-3128insA
XM_017010934.2:c.526+20580_526+20581insA XP_016866423.1:n.526+20580_526+20581insA
NM_000288.4:c.633+28_633+29insA MANE Select NP_000279.1:n.633+28_633+29insA