Canonical Allele Identifier: CA2773213235
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136826508_136826509insACA , CM000668.2:g.136826508_136826509insACA GRCh38
NC_000006.11:g.137147646_137147647insACA , CM000668.1:g.137147646_137147647insACA GRCh37
NC_000006.10:g.137189339_137189340insACA NCBI36
NG_008462.1:g.8929_8930insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.339+39_339+40insACA MANE Select ENSP00000315680.3:n.339+39_339+40insACA
ENST00000541292.6:c.339+39_339+40insACA ENSP00000441004.1:n.339+39_339+40insACA
ENST00000678002.1:c.214+39_214+40insACA
ENST00000678557.1:c.225+39_225+40insACA ENSP00000502962.1:n.225+39_225+40insACA
ENST00000678593.1:c.344+39_344+40insACA ENSP00000503841.1:n.344+39_344+40insACA
ENST00000679286.1:c.219+39_219+40insACA ENSP00000503168.1:n.219+39_219+40insACA
ENST00000318471.4:c.339+39_339+40insACA ENSP00000315680.3:n.339+39_339+40insACA
ENST00000367756.8:c.339+39_339+40insACA ENSP00000356730.4:n.339+39_339+40insACA
ENST00000541292.5:c.339+39_339+40insACA ENSP00000441004.1:n.339+39_339+40insACA
NM_000288.3:c.339+39_339+40insACA NP_000279.1:n.339+39_339+40insACA
XM_005267019.3:c.225+39_225+40insACA XP_005267076.1:n.225+39_225+40insACA
XM_006715502.1:c.339+39_339+40insACA XP_006715565.1:n.339+39_339+40insACA
XM_011535900.1:c.339+39_339+40insACA XP_011534202.1:n.339+39_339+40insACA
XM_005267019.4:c.225+39_225+40insACA XP_005267076.1:n.225+39_225+40insACA
XM_006715502.2:c.339+39_339+40insACA XP_006715565.1:n.339+39_339+40insACA
XM_017010934.2:c.339+39_339+40insACA XP_016866423.1:n.339+39_339+40insACA
NM_000288.4:c.339+39_339+40insACA MANE Select NP_000279.1:n.339+39_339+40insACA