Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238701_65238705del , CM000674.2:g.65238701_65238705del | GRCh38 |
| NC_000012.11:g.65632481_65632485del , CM000674.1:g.65632481_65632485del | GRCh37 |
| NC_000012.10:g.63918748_63918752del | NCBI36 |
| NG_016210.1:g.74131_74135del | |
| NG_016210.2:g.74131_74135del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1808_1812del MANE Select | ENSP00000308369.2:p.Thr603AsnfsTer3 | |
| ENST00000308330.2:c.1808_1812del | ENSP00000308369.2:p.Thr603AsnfsTer3 | |
| NM_001167614.1:c.1805_1809del | NP_001161086.1:p.Thr602AsnfsTer3 | |
| NM_014319.4:c.1808_1812del | NP_055134.2:p.Thr603AsnfsTer3 | |
| NM_014319.5:c.1808_1812del MANE Select | NP_055134.2:p.Thr603AsnfsTer3 | |
| NM_001167614.2:c.1805_1809del | NP_001161086.1:p.Thr602AsnfsTer3 |