Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23423728_23423729del , CM000676.2:g.23423728_23423729del | GRCh38 |
| NC_000014.8:g.23892937_23892938del , CM000676.1:g.23892937_23892938del | GRCh37 |
| NC_000014.7:g.22962777_22962778del | NCBI36 |
| NG_007884.1:g.16933_16934del , LRG_384:g.16933_16934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2923-6_2923-5del MANE Select | ENSP00000347507.3:n.2923-6_2923-5del | |
| ENST00000355349.3:c.2923-6_2923-5del | ENSP00000347507.3:n.2923-6_2923-5del | |
| NM_000257.3:c.2923-6_2923-5del | NP_000248.2:n.2923-6_2923-5del | |
| XR_245686.3:n.3029-6_3029-5del | ||
| XM_017021340.1:c.2923-6_2923-5del | XP_016876829.1:n.2923-6_2923-5del | |
| NM_000257.4:c.2923-6_2923-5del MANE Select | NP_000248.2:n.2923-6_2923-5del |