Linked Data
dbSNP Id:
rs757063573
ExAC:
5:52351381 TCAG / T
gnomAD v2:
5-52351381-TCAG-T
gnomAD v3:
5-53055551-TCAG-T
gnomAD v4:
5-53055551-TCAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53055556_53055558del , CM000667.2:g.53055556_53055558del | GRCh38 |
| NC_000005.9:g.52351386_52351388del , CM000667.1:g.52351386_52351388del | GRCh37 |
| NC_000005.8:g.52387143_52387145del | NCBI36 |
| NG_008330.1:g.71231_71233del | |
| NG_008330.2:g.71231_71233del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296585.10:c.798_800del MANE Select | ENSP00000296585.5:p.Ala267del | |
| ENST00000296585.9:c.798_800del | ENSP00000296585.5:p.Ala267del | |
| ENST00000503810.6:c.*142_*144del | ENSP00000426489.1:n.*142_*144del | |
| ENST00000509814.5:c.798_800del | ENSP00000424397.1:p.Ala267del | |
| ENST00000509960.5:c.798_800del | ENSP00000424642.1:p.Ala267del | |
| ENST00000510722.1:c.798_800del | ENSP00000422145.1:p.Ala267del | |
| ENST00000513685.5:c.*512_*514del | ENSP00000422095.1:n.*512_*514del | |
| NM_002203.3:c.798_800del | NP_002194.2:p.Ala267del | |
| NR_073103.1:n.941_943del | ||
| NR_073104.1:n.941_943del | ||
| NR_073105.1:n.941_943del | ||
| NR_073106.1:n.941_943del | ||
| NR_073107.1:n.820_822del | ||
| NM_002203.4:c.798_800del MANE Select | NP_002194.2:p.Ala267del | |
| NR_073103.2:n.915_917del | ||
| NR_073104.2:n.915_917del | ||
| NR_073105.2:n.915_917del | ||
| NR_073106.2:n.915_917del | ||
| NR_073107.2:n.794_796del |