Canonical Allele Identifier: CA2773214776
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872405_136872406insACA , CM000668.2:g.136872405_136872406insACA GRCh38
NC_000006.11:g.137193543_137193544insACA , CM000668.1:g.137193543_137193544insACA GRCh37
NC_000006.10:g.137235236_137235237insACA NCBI36
NG_008462.1:g.54826_54827insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.803+152_803+153insACA MANE Select ENSP00000315680.3:n.803+152_803+153insACA
ENST00000541292.6:c.*68+152_*68+153insACA ENSP00000441004.1:n.*68+152_*68+153insACA
ENST00000678002.1:c.491+152_491+153insACA
ENST00000678557.1:c.689+152_689+153insACA ENSP00000502962.1:n.689+152_689+153insACA
ENST00000678593.1:c.960_961insACA ENSP00000503841.1:n.960_961insACA
ENST00000679286.1:c.683+152_683+153insACA ENSP00000503168.1:n.683+152_683+153insACA
ENST00000318471.4:c.803+152_803+153insACA ENSP00000315680.3:n.803+152_803+153insACA
NM_000288.3:c.803+152_803+153insACA NP_000279.1:n.803+152_803+153insACA
XM_005267019.3:c.689+152_689+153insACA XP_005267076.1:n.689+152_689+153insACA
XM_006715502.1:c.509+152_509+153insACA XP_006715565.1:n.509+152_509+153insACA
XM_011535900.1:c.527-25737_527-25736insACA XP_011534202.1:n.527-25737_527-25736insACA
XM_005267019.4:c.689+152_689+153insACA XP_005267076.1:n.689+152_689+153insACA
XM_006715502.2:c.509+152_509+153insACA XP_006715565.1:n.509+152_509+153insACA
XM_017010934.2:c.527-25737_527-25736insACA XP_016866423.1:n.527-25737_527-25736insACA
NM_000288.4:c.803+152_803+153insACA MANE Select NP_000279.1:n.803+152_803+153insACA