Linked Data
gnomAD v4:
10-110812734-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812737del , CM000672.2:g.110812737del | GRCh38 |
| NC_000010.10:g.112572495del , CM000672.1:g.112572495del | GRCh37 |
| NC_000010.9:g.112562485del | NCBI36 |
| NG_021177.1:g.173341del , LRG_382:g.173341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2340del MANE Select | ENSP00000358532.3:p.Arg781GlyfsTer? | |
| ENST00000369519.3:c.2340del | ENSP00000358532.3:p.Arg781GlyfsTer? | |
| NM_001134363.2:c.2340del | NP_001127835.2:p.Arg781GlyfsTer? | |
| XM_011539697.1:c.1956del | XP_011537999.1:p.Arg653GlyfsTer? | |
| XM_017016103.2:c.2175del | XP_016871592.1:p.Arg726GlyfsTer? | |
| XM_017016104.2:c.1956del | XP_016871593.1:p.Arg653GlyfsTer? | |
| NM_001134363.3:c.2340del MANE Select | NP_001127835.2:p.Arg781GlyfsTer? |