Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251796_2251798dup , CM000681.2:g.2251796_2251798dup | GRCh38 |
| NC_000019.9:g.2251795_2251797dup , CM000681.1:g.2251795_2251797dup | GRCh37 |
| NC_000019.8:g.2202795_2202797dup | NCBI36 |
| NG_012190.1:g.7683_7685dup | |
| NG_032853.1:g.9629_9631dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1522_1524dup MANE Select | ENSP00000221496.2:p.Val508_Leu509insVal | |
| ENST00000221496.4:c.1522_1524dup | ENSP00000221496.2:p.Val508_Leu509insVal | |
| NM_000479.3:c.1522_1524dup | NP_000470.2:p.Val508_Leu509insVal | |
| NM_000479.4:c.1522_1524dup | NP_000470.2:p.Val508_Leu509insVal | |
| NM_000479.5:c.1522_1524dup MANE Select | NP_000470.3:p.Val508_Leu509insVal |