Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135794754_135794757del , CM000664.2:g.135794754_135794757del | GRCh38 |
| NC_000002.11:g.136552324_136552327del , CM000664.1:g.136552324_136552327del | GRCh37 |
| NC_000002.10:g.136268794_136268797del | NCBI36 |
| NG_008104.2:g.65416_65419del , LRG_338:g.65416_65419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.4998_5001del MANE Select | ENSP00000264162.2:p.Ser1666ArgfsTer? | |
| ENST00000264162.6:c.4998_5001del | ENSP00000264162.2:p.Ser1666ArgfsTer? | |
| ENST00000452974.1:c.3091_3094del | ENSP00000391231.1:n.3091_3094del | |
| NM_002299.2:c.4998_5001del , LRG_338t1:c.4998_5001del | NP_002290.2:p.Ser1666ArgfsTer? | |
| NM_002299.3:c.4998_5001del | NP_002290.2:p.Ser1666ArgfsTer? | |
| XM_017004088.2:c.4998_5001del | XP_016859577.1:p.Ser1666ArgfsTer? | |
| NM_002299.4:c.4998_5001del MANE Select | NP_002290.2:p.Ser1666ArgfsTer? |