Linked Data
gnomAD v4:
17-72123922-CCCGCAGGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123925_72123933del , CM000679.2:g.72123925_72123933del | GRCh38 |
| NC_000017.10:g.70120066_70120074del , CM000679.1:g.70120066_70120074del | GRCh37 |
| NC_000017.9:g.67631661_67631669del | NCBI36 |
| NG_012490.1:g.7906_7914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1068_1076del MANE Select | ENSP00000245479.2:p.Gln357_Pro359del | |
| ENST00000245479.2:c.1068_1076del | ENSP00000245479.2:p.Gln357_Pro359del | |
| NM_000346.3:c.1068_1076del | NP_000337.1:p.Gln357_Pro359del | |
| NM_000346.4:c.1068_1076del MANE Select | NP_000337.1:p.Gln357_Pro359del |