Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147907953_147907954del , CM000663.2:g.147907953_147907954del | GRCh38 |
| NC_000001.10:g.147380080_147380081del , CM000663.1:g.147380080_147380081del | GRCh37 |
| NC_000001.9:g.145846704_145846705del | NCBI36 |
| NG_016242.1:g.10135_10136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.-3_-2del MANE Select | ENSP00000358238.1:n.-3_-2del | |
| NM_005267.4:c.-3_-2del | NP_005258.2:n.-3_-2del | |
| XM_011509416.1:c.-3_-2del | XP_011507718.1:n.-3_-2del | |
| XM_011509417.1:c.-3_-2del | XP_011507719.1:n.-3_-2del | |
| XM_011509417.2:c.-3_-2del | XP_011507719.1:n.-3_-2del | |
| XR_002956281.1:n.913_914del | ||
| NM_005267.5:c.-3_-2del MANE Select | NP_005258.2:n.-3_-2del |