Linked Data
ClinVar Variation Id:
445735
dbSNP Id:
rs775506222
ExAC:
14:50585303 CTAA / C
gnomAD v2:
14-50585303-CTAA-C
gnomAD v3:
14-50118585-CTAA-C
gnomAD v4:
14-50118585-CTAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118587_50118589del , CM000676.2:g.50118587_50118589del | GRCh38 |
| NC_000014.8:g.50585305_50585307del , CM000676.1:g.50585305_50585307del | GRCh37 |
| NC_000014.7:g.49655055_49655057del | NCBI36 |
| NG_051073.1:g.118106_118108del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216373.10:c.3755_3757del MANE Select | ENSP00000216373.5:p.Ile1252del | |
| ENST00000216373.9:c.3755_3757del | ENSP00000216373.5:p.Ile1252del | |
| ENST00000543680.5:c.3656_3658del | ENSP00000445328.1:p.Ile1219del | |
| NM_006939.2:c.3755_3757del | NP_008870.2:p.Ile1252del | |
| XM_005268021.1:c.3575_3577del | XP_005268078.1:p.Ile1192del | |
| XM_011537103.1:c.3716_3718del | XP_011535405.1:p.Ile1239del | |
| NM_006939.3:c.3755_3757del | NP_008870.2:p.Ile1252del | |
| NM_006939.4:c.3755_3757del MANE Select | NP_008870.2:p.Ile1252del |