Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590582_61590584del , CM000679.2:g.61590582_61590584del | GRCh38 |
| NC_000017.10:g.59667943_59667945del , CM000679.1:g.59667943_59667945del | GRCh37 |
| NC_000017.9:g.57022725_57022727del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.600_602del MANE Select | ENSP00000427802.1:p.Lys200del | |
| ENST00000521764.2:c.600_602del | ENSP00000427802.1:p.Lys200del | |
| NM_199290.3:c.600_602del | NP_954984.1:p.Lys200del | |
| NM_199290.4:c.600_602del MANE Select | NP_954984.1:p.Lys200del |