Linked Data
dbSNP Id:
rs1726267720
gnomAD v3:
4-88008377-GCGCCGGCCGGGGC-G
gnomAD v4:
4-88008377-GCGCCGGCCGGGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008379_88008391del , CM000666.2:g.88008379_88008391del | GRCh38 |
| NC_000004.11:g.88929531_88929543del , CM000666.1:g.88929531_88929543del | GRCh37 |
| NC_000004.10:g.89148555_89148567del | NCBI36 |
| NG_008604.1:g.5712_5724del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.595+51_595+63del MANE Select | ENSP00000237596.2:n.595+51_595+63del | |
| ENST00000237596.6:c.595+51_595+63del | ENSP00000237596.2:n.595+51_595+63del | |
| ENST00000506727.1:n.97+51_97+63del | ||
| NM_000297.3:c.595+51_595+63del | NP_000288.1:n.595+51_595+63del | |
| XM_011532028.1:c.595+51_595+63del | XP_011530330.1:n.595+51_595+63del | |
| XR_244632.2:n.690+51_690+63del | ||
| NR_156488.1:n.682+51_682+63del | ||
| XM_011532028.2:c.595+51_595+63del | XP_011530330.1:n.595+51_595+63del | |
| NM_000297.4:c.595+51_595+63del MANE Select | NP_000288.1:n.595+51_595+63del | |
| NR_156488.2:n.694+51_694+63del |