Linked Data
gnomAD v4:
5-71719344-GCTGATGCTAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71719347_71719356del , CM000667.2:g.71719347_71719356del | GRCh38 |
| NC_000005.9:g.71015174_71015183del , CM000667.1:g.71015174_71015183del | GRCh37 |
| NC_000005.8:g.71050930_71050939del | NCBI36 |
| NG_015988.1:g.5185_5194del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296777.5:c.54_63del MANE Select | ENSP00000296777.4:p.Met19CysfsTer? | |
| ENST00000296777.4:c.54_63del | ENSP00000296777.4:p.Met19CysfsTer? | |
| NM_004291.3:c.54_63del | NP_004282.1:p.Met19CysfsTer? | |
| NM_004291.4:c.54_63del MANE Select | NP_004282.1:p.Met19CysfsTer? |