Linked Data
ClinVar Variation Id:
1685512
ClinVar RCV Id:
RCV002249239
dbSNP Id:
rs1380295297
gnomAD v4:
3-148741263-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148741268del , CM000665.2:g.148741268del | GRCh38 |
| NC_000003.11:g.148459055del , CM000665.1:g.148459055del | GRCh37 |
| NC_000003.10:g.149941745del | NCBI36 |
| NG_008468.1:g.48398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349243.8:c.233del MANE Select | ENSP00000273430.3:p.Leu78TyrfsTer2 | |
| ENST00000402260.2:c.233del | ENSP00000385641.3:p.Leu78TyrfsTer2 | |
| ENST00000418473.7:c.233del | ENSP00000398832.4:p.Leu78TyrfsTer2 | |
| ENST00000349243.7:c.233del | ENSP00000273430.3:p.Leu78TyrfsTer2 | |
| ENST00000402260.1:c.320del | ENSP00000385641.2:p.Leu107TyrfsTer2 | |
| ENST00000404754.2:c.233del | ENSP00000385612.2:p.Leu78TyrfsTer2 | |
| ENST00000418473.6:c.338del | ENSP00000398832.3:p.Leu113TyrfsTer2 | |
| ENST00000461609.1:c.233del | ENSP00000418851.1:p.Leu78TyrfsTer2 | |
| ENST00000474935.5:c.233del | ENSP00000418084.1:p.Leu78TyrfsTer2 | |
| ENST00000475347.5:c.233del | ENSP00000419783.1:p.Leu78TyrfsTer2 | |
| ENST00000497524.5:c.233del | ENSP00000419422.1:p.Leu78TyrfsTer2 | |
| NM_000685.4:c.233del | NP_000676.1:p.Leu78TyrfsTer2 | |
| NM_004835.4:c.338del | NP_004826.5:p.Leu113TyrfsTer2 | |
| NM_009585.3:c.233del | NP_033611.1:p.Leu78TyrfsTer2 | |
| NM_031850.3:c.338del | NP_114038.4:p.Leu113TyrfsTer2 | |
| NM_032049.3:c.320del | NP_114438.2:p.Leu107TyrfsTer2 | |
| NM_000685.5:c.233del MANE Select | NP_000676.1:p.Leu78TyrfsTer2 | |
| NM_001382736.1:c.233del | NP_001369665.1:p.Leu78TyrfsTer2 | |
| NM_001382737.1:c.233del | NP_001369666.1:p.Leu78TyrfsTer2 | |
| NM_004835.5:c.233del | NP_004826.6:p.Leu78TyrfsTer2 | |
| NM_009585.4:c.233del | NP_033611.1:p.Leu78TyrfsTer2 | |
| NM_031850.4:c.233del | NP_114038.5:p.Leu78TyrfsTer2 | |
| NM_032049.4:c.233del | NP_114438.3:p.Leu78TyrfsTer2 |