Linked Data
gnomAD v4:
12-48981598-CCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981600_48981601del , CM000674.2:g.48981600_48981601del | GRCh38 |
| NC_000012.11:g.49375383_49375384del , CM000674.1:g.49375383_49375384del | GRCh37 |
| NC_000012.10:g.47661650_47661651del | NCBI36 |
| NG_033141.1:g.8148_8149del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1073_1074del MANE Select | ENSP00000293549.3:p.Arg358GlnfsTer? | |
| ENST00000293549.3:c.1073_1074del | ENSP00000293549.3:p.Arg358GlnfsTer? | |
| ENST00000613114.4:c.1040_1041del | ENSP00000481240.1:p.Arg347GlnfsTer? | |
| NM_005430.3:c.1073_1074del | NP_005421.1:p.Arg358GlnfsTer? | |
| NM_005430.4:c.1073_1074del MANE Select | NP_005421.1:p.Arg358GlnfsTer? |