Linked Data
gnomAD v4:
10-114045316-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114045317_114045318del , CM000672.2:g.114045317_114045318del | GRCh38 |
| NC_000010.10:g.115805076_115805077del , CM000672.1:g.115805076_115805077del | GRCh37 |
| NC_000010.9:g.115795066_115795067del | NCBI36 |
| NG_012187.1:g.6271_6272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1185_1186del MANE Select | ENSP00000358301.2:p.Arg396GlyfsTer? | |
| ENST00000369295.3:c.1185_1186del | ENSP00000358301.2:p.Arg396GlyfsTer? | |
| NM_000684.2:c.1185_1186del | NP_000675.1:p.Arg396GlyfsTer? | |
| NM_000684.3:c.1185_1186del MANE Select | NP_000675.1:p.Arg396GlyfsTer? |