Linked Data
gnomAD v4:
17-41624562-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624566del , CM000679.2:g.41624566del | GRCh38 |
| NC_000017.10:g.39780818del , CM000679.1:g.39780818del | GRCh37 |
| NC_000017.9:g.37034344del | NCBI36 |
| NG_008625.1:g.5068del | |
| NG_009090.2:g.167150del , LRG_401:g.167150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.-54del MANE Select | ENSP00000308452.8:n.-54del | |
| ENST00000311208.12:c.-54del | ENSP00000308452.8:n.-54del | |
| ENST00000463128.5:c.-313+180del | ENSP00000468672.1:n.-313+180del | |
| ENST00000491673.1:n.13del | ||
| NM_000422.2:c.-54del | NP_000413.1:n.-54del | |
| NM_000422.3:c.-54del MANE Select | NP_000413.1:n.-54del |