Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15160959_15160960delinsAA , CM000681.2:g.15160959_15160960delinsAA | GRCh38 |
| NC_000019.9:g.15271770_15271771delinsAA , CM000681.1:g.15271770_15271771delinsAA | GRCh37 |
| NC_000019.8:g.15132770_15132771delinsAA | NCBI36 |
| NG_009819.1:g.45022_45023delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.6668_6669delinsTT MANE Select | ENSP00000263388.1:p.Ala2223Val | |
| ENST00000263388.6:c.6668_6669delinsTT | ENSP00000263388.1:p.Ala2223Val | |
| NM_000435.2:c.6668_6669delinsTT | NP_000426.2:p.Ala2223Val | |
| XM_005259924.3:c.6512_6513delinsTT | XP_005259981.1:p.Ala2171Val | |
| XM_005259924.4:c.6512_6513delinsTT | XP_005259981.1:p.Ala2171Val | |
| NM_000435.3:c.6668_6669delinsTT MANE Select | NP_000426.2:p.Ala2223Val |