Canonical Allele Identifier: CA2500884409
Gene: PEX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136866542_136866543insCGCAAATTGTC , CM000668.2:g.136866542_136866543insCGCAAATTGTC GRCh38
NC_000006.11:g.137187680_137187681insCGCAAATTGTC , CM000668.1:g.137187680_137187681insCGCAAATTGTC GRCh37
NC_000006.10:g.137229373_137229374insCGCAAATTGTC NCBI36
NG_008462.1:g.48963_48964insCGCAAATTGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.527-85_527-84insCGCAAATTGTC MANE Select ENSP00000315680.3:n.527-85_527-84insCGCAA...
ENST00000541292.6:c.527-85_527-84insCGCAAATTGTC ENSP00000441004.1:n.527-85_527-84insCGCAA...
ENST00000678002.1:c.215-85_215-84insCGCAAATTGTC
ENST00000678557.1:c.413-85_413-84insCGCAAATTGTC ENSP00000502962.1:n.413-85_413-84insCGCAA...
ENST00000678593.1:c.532-85_532-84insCGCAAATTGTC ENSP00000503841.1:n.532-85_532-84insCGCAA...
ENST00000679286.1:c.407-85_407-84insCGCAAATTGTC ENSP00000503168.1:n.407-85_407-84insCGCAA...
ENST00000318471.4:c.527-85_527-84insCGCAAATTGTC ENSP00000315680.3:n.527-85_527-84insCGCAA...
ENST00000541292.5:c.527-85_527-84insCGCAAATTGTC ENSP00000441004.1:n.527-85_527-84insCGCAA...
NM_000288.3:c.527-85_527-84insCGCAAATTGTC NP_000279.1:n.527-85_527-84insCGCAAATTGTC...
XM_005267019.3:c.413-85_413-84insCGCAAATTGTC XP_005267076.1:n.413-85_413-84insCGCAAATT...
XM_006715502.1:c.340-3348_340-3347insCGCAAATTGTC XP_006715565.1:n.340-3348_340-3347insCGCA...
XM_011535900.1:c.526+20361_526+20362insCGCAAATTGTC XP_011534202.1:n.526+20361_526+20362insCG...
XM_005267019.4:c.413-85_413-84insCGCAAATTGTC XP_005267076.1:n.413-85_413-84insCGCAAATT...
XM_006715502.2:c.340-3348_340-3347insCGCAAATTGTC XP_006715565.1:n.340-3348_340-3347insCGCA...
XM_017010934.2:c.526+20361_526+20362insCGCAAATTGTC XP_016866423.1:n.526+20361_526+20362insCG...
NM_000288.4:c.527-85_527-84insCGCAAATTGTC MANE Select NP_000279.1:n.527-85_527-84insCGCAAATTGTC...