Linked Data
gnomAD v4:
4-88007780-AGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007782_88007783del , CM000666.2:g.88007782_88007783del | GRCh38 |
| NC_000004.11:g.88928934_88928935del , CM000666.1:g.88928934_88928935del | GRCh37 |
| NC_000004.10:g.89147958_89147959del | NCBI36 |
| NG_008604.1:g.5115_5116del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.49_50del MANE Select | ENSP00000237596.2:p.Arg17AlafsTer? | |
| ENST00000237596.6:c.49_50del | ENSP00000237596.2:p.Arg17AlafsTer? | |
| NM_000297.3:c.49_50del | NP_000288.1:p.Arg17AlafsTer? | |
| XM_011532028.1:c.49_50del | XP_011530330.1:p.Arg17AlafsTer? | |
| XR_244632.2:n.144_145del | ||
| NR_156488.1:n.136_137del | ||
| XM_011532028.2:c.49_50del | XP_011530330.1:p.Arg17AlafsTer? | |
| NM_000297.4:c.49_50del MANE Select | NP_000288.1:p.Arg17AlafsTer? | |
| NR_156488.2:n.148_149del |