Linked Data
gnomAD v4:
17-63940961-TTGGCAAGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63940962_63940969del , CM000679.2:g.63940962_63940969del | GRCh38 |
| NC_000017.10:g.62018322_62018329del , CM000679.1:g.62018322_62018329del | GRCh37 |
| NC_000017.9:g.59372054_59372061del | NCBI36 |
| NG_011699.1:g.36950_36957del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5313_5320del MANE Select | ENSP00000396320.1:p.Leu1772HisfsTer? | |
| ENST00000578147.5:c.5313_5320del | ENSP00000463963.1:p.Leu1772HisfsTer? | |
| NM_000334.4:c.5313_5320del MANE Select | NP_000325.4:p.Leu1772HisfsTer? | |
| XM_005257566.3:c.5313_5320del | XP_005257623.1:p.Leu1772HisfsTer? |