Linked Data
gnomAD v4:
1-55040011-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040013del , CM000663.2:g.55040013del | GRCh38 |
| NC_000001.10:g.55505686del , CM000663.1:g.55505686del | GRCh37 |
| NC_000001.9:g.55278274del | NCBI36 |
| NG_009061.1:g.5467del , LRG_275:g.5467del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.176del | ENSP00000501161.2:p.Gly59GlufsTer24 | |
| ENST00000710286.1:c.533del | ENSP00000518176.1:p.Gly178GlufsTer24 | |
| ENST00000673726.1:c.176del | ENSP00000501004.1:p.Gly59GlufsTer24 | |
| ENST00000302118.5:c.176del MANE Select | ENSP00000303208.5:p.Gly59GlufsTer24 | |
| NM_174936.3:c.176del , LRG_275t1:c.176del | NP_777596.2:p.Gly59GlufsTer24 | |
| NM_174936.4:c.176del MANE Select | NP_777596.2:p.Gly59GlufsTer24 |