Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794572_77794573delinsAA , CM000671.2:g.77794572_77794573delinsAA | GRCh38 |
| NC_000009.11:g.80409488_80409489delinsAA , CM000671.1:g.80409488_80409489delinsAA | GRCh37 |
| NC_000009.10:g.79599308_79599309delinsAA | NCBI36 |
| NG_027904.2:g.241731_241732delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002072.5:c.625_626delinsTT MANE Select | NP_002063.2:p.Gln209Leu |
| ENST00000286548.9:c.625_626delinsTT MANE Select | ENSP00000286548.4:p.Gln209Leu |
| NM_002072.4:c.625_626delinsTT | NP_002063.2:p.Gln209Leu |
| ENST00000286548.8:c.625_626delinsTT | ENSP00000286548.4:p.Gln209Leu |
| XM_017014628.2:c.451_452delinsTT | XP_016870117.1:p.Gln151Leu |