Linked Data
ClinVar Variation Id:
191341
ClinVar RCV Id:
RCV003324518
dbSNP Id:
rs750542962
ExAC:
8:55538158 TAACTC / T
gnomAD v2:
8-55538158-TAACTC-T
gnomAD v3:
8-54625598-TAACTC-T
gnomAD v4:
8-54625598-TAACTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54625601_54625605del , CM000670.2:g.54625601_54625605del | GRCh38 |
| NC_000008.10:g.55538161_55538165del , CM000670.1:g.55538161_55538165del | GRCh37 |
| NC_000008.9:g.55700714_55700718del | NCBI36 |
| NG_009840.1:g.14535_14539del | |
| NG_009840.2:g.14535_14539del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000220676.2:c.1719_1723del MANE Select | ENSP00000220676.1:p.Ser574CysfsTer7 | |
| ENST00000636932.1:c.787+3313_787+3317del | ENSP00000489857.1:n.787+3313_787+3317del | |
| ENST00000637698.1:c.787+3313_787+3317del | ENSP00000490104.1:n.787+3313_787+3317del | |
| ENST00000220676.1:c.1719_1723del | ENSP00000220676.1:p.Ser574CysfsTer7 | |
| NM_006269.1:c.1719_1723del | NP_006260.1:p.Ser574CysfsTer7 | |
| XM_017013721.1:c.1740_1744del | XP_016869210.1:p.Ser581CysfsTer7 | |
| XM_017013722.1:c.1719_1723del | XP_016869211.1:p.Ser574CysfsTer7 | |
| NM_001375654.1:c.787+3313_787+3317del | NP_001362583.1:n.787+3313_787+3317del | |
| NM_006269.2:c.1719_1723del MANE Select | NP_006260.1:p.Ser574CysfsTer7 |