Linked Data
gnomAD v4:
17-39665999-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39666000del , CM000679.2:g.39666000del | GRCh38 |
| NC_000017.10:g.37822253del , CM000679.1:g.37822253del | GRCh37 |
| NC_000017.9:g.35075779del | NCBI36 |
| NG_008892.1:g.5655del , LRG_210:g.5655del | |
| NG_042278.1:g.3020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.395del MANE Select | ENSP00000312624.2:p.Glu132GlyfsTer? | |
| ENST00000309889.2:c.395del | ENSP00000312624.2:p.Glu132GlyfsTer? | |
| ENST00000578283.1:c.323del | ENSP00000462787.1:p.Glu108GlyfsTer? | |
| NM_003673.3:c.395del , LRG_210t1:c.395del | NP_003664.1:p.Glu132GlyfsTer? | |
| NM_003673.4:c.395del MANE Select | NP_003664.1:p.Glu132GlyfsTer? |