Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224720_6224729del , CM000668.2:g.6224720_6224729del | GRCh38 |
| NC_000006.11:g.6224953_6224962del , CM000668.1:g.6224953_6224962del | GRCh37 |
| NC_000006.10:g.6169952_6169961del | NCBI36 |
| NG_008107.1:g.100964_100973del , LRG_549:g.100964_100973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.931_940del MANE Select | ENSP00000264870.3:p.Arg311AsnfsTer? | |
| ENST00000264870.7:c.931_940del | ENSP00000264870.3:p.Arg311AsnfsTer? | |
| ENST00000445223.1:c.81_90del | ||
| NM_000129.3:c.931_940del , LRG_549t1:c.931_940del | NP_000120.2:p.Arg311AsnfsTer? | |
| XM_006715010.2:c.931_940del | XP_006715073.1:p.Arg311AsnfsTer? | |
| XM_011514342.1:c.1093_1102del | XP_011512644.1:p.Arg365AsnfsTer? | |
| NM_000129.4:c.931_940del MANE Select | NP_000120.2:p.Arg311AsnfsTer? |