ClinVar Variation:
dbSNP:
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438255del , CM000663.2:g.68438255del | GRCh38 |
| NC_000001.10:g.68903938del , CM000663.1:g.68903938del | GRCh37 |
| NC_000001.9:g.68676526del | NCBI36 |
| NG_008472.1:g.16712del | |
| NG_008472.2:g.16712del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1067del MANE Select | ENSP00000262340.5:p.Asn356MetfsTer17 | |
| ENST00000262340.5:c.1067del | ENSP00000262340.5:p.Asn356MetfsTer17 | |
| NM_000329.2:c.1067del | NP_000320.1:p.Asn356MetfsTer17 | |
| XM_017002027.1:c.791del | XP_016857516.1:p.Asn264MetfsTer17 | |
| NM_000329.3:c.1067del MANE Select | NP_000320.1:p.Asn356MetfsTer17 |