Linked Data
gnomAD v4:
11-113475346-GGGGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113475350_113475354del , CM000673.2:g.113475350_113475354del | GRCh38 |
| NC_000011.9:g.113346072_113346076del , CM000673.1:g.113346072_113346076del | GRCh37 |
| NC_000011.8:g.112851282_112851286del | NCBI36 |
| NG_008841.1:g.4929_4933del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362072.8:c.-307_-303del MANE Select | ENSP00000354859.3:n.-307_-303del | |
| ENST00000362072.7:c.-307_-303del | ENSP00000354859.3:n.-307_-303del | |
| ENST00000540600.5:n.34+307_34+311del | ||
| NM_000795.4:c.-307_-303del MANE Select | NP_000786.1:n.-307_-303del | |
| NM_016574.4:c.-307_-303del | NP_057658.2:n.-307_-303del |