Linked Data
gnomAD v4:
12-65170165-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170167del , CM000674.2:g.65170167del | GRCh38 |
| NC_000012.11:g.65563947del , CM000674.1:g.65563947del | GRCh37 |
| NC_000012.10:g.63850214del | NCBI36 |
| NG_016210.1:g.5597del | |
| NG_016210.2:g.5597del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.571del MANE Select | ENSP00000308369.2:p.Arg191GlyfsTer? | |
| ENST00000308330.2:c.571del | ENSP00000308369.2:p.Arg191GlyfsTer? | |
| ENST00000541171.1:n.585del | ||
| NM_001167614.1:c.571del | NP_001161086.1:p.Arg191GlyfsTer? | |
| NM_014319.4:c.571del | NP_055134.2:p.Arg191GlyfsTer? | |
| NM_014319.5:c.571del MANE Select | NP_055134.2:p.Arg191GlyfsTer? | |
| NM_001167614.2:c.571del | NP_001161086.1:p.Arg191GlyfsTer? |