Linked Data
gnomAD v4:
1-114709436-AAAAAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709450_114709456del , CM000663.2:g.114709450_114709456del | GRCh38 |
| NC_000001.10:g.115252071_115252077del , CM000663.1:g.115252071_115252077del | GRCh37 |
| NC_000001.9:g.115053594_115053600del | NCBI36 |
| NG_007572.1:g.12452_12458del , LRG_92:g.12452_12458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.450+126_450+132del MANE Select | ENSP00000358548.4:n.450+126_450+132del | |
| ENST00000369535.4:c.450+126_450+132del | ENSP00000358548.4:n.450+126_450+132del | |
| NM_002524.4:c.450+126_450+132del | NP_002515.1:n.450+126_450+132del | |
| NM_002524.5:c.450+126_450+132del MANE Select | NP_002515.1:n.450+126_450+132del |