Canonical Allele Identifier: CA2773213625
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866797_136866798insAG , CM000668.2:g.136866797_136866798insAG GRCh38
NC_000006.11:g.137187935_137187936insAG , CM000668.1:g.137187935_137187936insAG GRCh37
NC_000006.10:g.137229628_137229629insAG NCBI36
NG_008462.1:g.49218_49219insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.633+64_633+65insAG MANE Select ENSP00000315680.3:n.633+64_633+65insAG
ENST00000541292.6:c.633+64_633+65insAG ENSP00000441004.1:n.633+64_633+65insAG
ENST00000678002.1:c.321+64_321+65insAG
ENST00000678557.1:c.519+64_519+65insAG ENSP00000502962.1:n.519+64_519+65insAG
ENST00000678593.1:c.638+64_638+65insAG ENSP00000503841.1:n.638+64_638+65insAG
ENST00000679286.1:c.513+64_513+65insAG ENSP00000503168.1:n.513+64_513+65insAG
ENST00000318471.4:c.633+64_633+65insAG ENSP00000315680.3:n.633+64_633+65insAG
ENST00000541292.5:c.633+64_633+65insAG ENSP00000441004.1:n.633+64_633+65insAG
NM_000288.3:c.633+64_633+65insAG NP_000279.1:n.633+64_633+65insAG
XM_005267019.3:c.519+64_519+65insAG XP_005267076.1:n.519+64_519+65insAG
XM_006715502.1:c.340-3093_340-3092insAG XP_006715565.1:n.340-3093_340-3092insAG
XM_011535900.1:c.526+20616_526+20617insAG XP_011534202.1:n.526+20616_526+20617insAG
XM_005267019.4:c.519+64_519+65insAG XP_005267076.1:n.519+64_519+65insAG
XM_006715502.2:c.340-3093_340-3092insAG XP_006715565.1:n.340-3093_340-3092insAG
XM_017010934.2:c.526+20616_526+20617insAG XP_016866423.1:n.526+20616_526+20617insAG
NM_000288.4:c.633+64_633+65insAG MANE Select NP_000279.1:n.633+64_633+65insAG