Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444857_68444858insT , CM000663.2:g.68444857_68444858insT | GRCh38 |
| NC_000001.10:g.68910540_68910541insT , CM000663.1:g.68910540_68910541insT | GRCh37 |
| NC_000001.9:g.68683128_68683129insT | NCBI36 |
| NG_008472.1:g.10102_10103insA | |
| NG_008472.2:g.10102_10103insA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.271_272insA MANE Select | NP_000320.1:p.Arg91GlnfsTer5 |
| ENST00000262340.6:c.271_272insA MANE Select | ENSP00000262340.5:p.Arg91GlnfsTer5 |
| NM_000329.2:c.271_272insA | NP_000320.1:p.Arg91GlnfsTer5 |
| ENST00000262340.5:c.271_272insA | ENSP00000262340.5:p.Arg91GlnfsTer5 |
| XM_017002027.1:c.-6_-5insA | XP_016857516.1:n.-6_-5insA |