Canonical Allele Identifier: CA2773214775
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136872404_136872405insACA , CM000668.2:g.136872404_136872405insACA GRCh38
NC_000006.11:g.137193542_137193543insACA , CM000668.1:g.137193542_137193543insACA GRCh37
NC_000006.10:g.137235235_137235236insACA NCBI36
NG_008462.1:g.54825_54826insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.803+151_803+152insACA MANE Select ENSP00000315680.3:n.803+151_803+152insACA
ENST00000541292.6:c.*68+151_*68+152insACA ENSP00000441004.1:n.*68+151_*68+152insACA
ENST00000678002.1:c.491+151_491+152insACA
ENST00000678557.1:c.689+151_689+152insACA ENSP00000502962.1:n.689+151_689+152insACA
ENST00000678593.1:c.959_960insACA ENSP00000503841.1:n.959_960insACA
ENST00000679286.1:c.683+151_683+152insACA ENSP00000503168.1:n.683+151_683+152insACA
ENST00000318471.4:c.803+151_803+152insACA ENSP00000315680.3:n.803+151_803+152insACA
NM_000288.3:c.803+151_803+152insACA NP_000279.1:n.803+151_803+152insACA
XM_005267019.3:c.689+151_689+152insACA XP_005267076.1:n.689+151_689+152insACA
XM_006715502.1:c.509+151_509+152insACA XP_006715565.1:n.509+151_509+152insACA
XM_011535900.1:c.527-25738_527-25737insACA XP_011534202.1:n.527-25738_527-25737insACA
XM_005267019.4:c.689+151_689+152insACA XP_005267076.1:n.689+151_689+152insACA
XM_006715502.2:c.509+151_509+152insACA XP_006715565.1:n.509+151_509+152insACA
XM_017010934.2:c.527-25738_527-25737insACA XP_016866423.1:n.527-25738_527-25737insACA
NM_000288.4:c.803+151_803+152insACA MANE Select NP_000279.1:n.803+151_803+152insACA