Linked Data
ClinVar Variation Id:
420168
ClinVar RCV Id:
RCV000485362
dbSNP Id:
rs1064794325
gnomAD v2:
19-42753061-CTT-C
gnomAD v4:
19-42248909-CTT-C
COSMIC:
COSM5423530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42248910_42248911del , CM000681.2:g.42248910_42248911del | GRCh38 |
| NC_000019.9:g.42753062_42753063del , CM000681.1:g.42753062_42753063del | GRCh37 |
| NC_000019.8:g.47444902_47444903del | NCBI36 |
| NG_042802.1:g.11254_11255del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222329.9:c.1201_1202del MANE Select | ENSP00000222329.3:p.Lys401GlufsTer10 | |
| ENST00000222329.8:c.1201_1202del | ENSP00000222329.3:p.Lys401GlufsTer10 | |
| ENST00000440177.6:c.976_977del | ENSP00000388173.2:p.Lys326GlufsTer10 | |
| ENST00000594664.1:c.22+6067_22+6068del | ENSP00000470087.1:n.22+6067_22+6068del | |
| NM_001301035.1:c.976_977del | NP_001287964.1:p.Lys326GlufsTer10 | |
| NM_001308402.1:c.976_977del | NP_001295331.1:p.Lys326GlufsTer10 | |
| NM_001312656.1:c.976_977del | NP_001299585.1:p.Lys326GlufsTer10 | |
| NM_006494.3:c.1201_1202del | NP_006485.2:p.Lys401GlufsTer10 | |
| XM_011526612.1:c.976_977del | XP_011524914.1:p.Lys326GlufsTer10 | |
| XM_011526613.1:c.976_977del | XP_011524915.1:p.Lys326GlufsTer10 | |
| XM_017026468.1:c.976_977del | XP_016881957.1:p.Lys326GlufsTer10 | |
| XM_017026469.1:c.976_977del | XP_016881958.1:p.Lys326GlufsTer10 | |
| NM_006494.4:c.1201_1202del MANE Select | NP_006485.2:p.Lys401GlufsTer10 | |
| NM_001308402.2:c.976_977del | NP_001295331.1:p.Lys326GlufsTer10 | |
| NM_001312656.2:c.976_977del | NP_001299585.1:p.Lys326GlufsTer10 | |
| NM_001301035.2:c.976_977del | NP_001287964.1:p.Lys326GlufsTer10 |