Linked Data
gnomAD v4:
1-114713988-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713991_114713993del , CM000663.2:g.114713991_114713993del | GRCh38 |
| NC_000001.10:g.115256612_115256614del , CM000663.1:g.115256612_115256614del | GRCh37 |
| NC_000001.9:g.115058135_115058137del | NCBI36 |
| NG_007572.1:g.7904_7906del , LRG_92:g.7904_7906del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-13_112-11del MANE Select | ENSP00000358548.4:n.112-13_112-11del | |
| ENST00000369535.4:c.112-13_112-11del | ENSP00000358548.4:n.112-13_112-11del | |
| NM_002524.4:c.112-13_112-11del | NP_002515.1:n.112-13_112-11del | |
| NM_002524.5:c.112-13_112-11del MANE Select | NP_002515.1:n.112-13_112-11del |