Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869280del , CM000664.2:g.240869280del | GRCh38 |
| NC_000002.11:g.241808697del , CM000664.1:g.241808697del | GRCh37 |
| NC_000002.10:g.241457370del | NCBI36 |
| NG_008005.1:g.5536del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.276del MANE Select | NP_000021.1:p.Asn92LysfsTer28 |
| ENST00000307503.4:c.276del MANE Select | ENSP00000302620.3:p.Asn92LysfsTer28 |
| NM_000030.2:c.276del | NP_000021.1:p.Asn92LysfsTer28 |
| ENST00000307503.3:c.276del | ENSP00000302620.3:p.Asn92LysfsTer28 |
| ENST00000472436.1:n.296del | |
| XR_924060.1:n.405+953del |