Linked Data
gnomAD v4:
8-118932790-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118932792_118932793del , CM000670.2:g.118932792_118932793del | GRCh38 |
| NC_000008.10:g.119945031_119945032del , CM000670.1:g.119945031_119945032del | GRCh37 |
| NC_000008.9:g.120014212_120014213del | NCBI36 |
| NG_012202.1:g.24353_24354del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297350.9:c.400+139_400+140del MANE Select | ENSP00000297350.4:n.400+139_400+140del | |
| ENST00000297350.8:c.400+139_400+140del | ENSP00000297350.4:n.400+139_400+140del | |
| ENST00000517352.1:c.400+139_400+140del | ENSP00000427924.1:n.400+139_400+140del | |
| NM_002546.3:c.400+139_400+140del | NP_002537.3:n.400+139_400+140del | |
| NM_002546.4:c.400+139_400+140del MANE Select | NP_002537.3:n.400+139_400+140del |