Linked Data
ClinVar Variation Id:
996173
dbSNP Id:
rs76572092
gnomAD v2:
17-42452449-GCACCACAGTA-G
gnomAD v3:
17-44375081-GCACCACAGTA-G
gnomAD v4:
17-44375081-GCACCACAGTA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375084_44375093del , CM000679.2:g.44375084_44375093del | GRCh38 |
| NC_000017.10:g.42452452_42452461del , CM000679.1:g.42452452_42452461del | GRCh37 |
| NC_000017.9:g.39807978_39807987del | NCBI36 |
| NG_008331.1:g.19415_19424del , LRG_479:g.19415_19424del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262407.6:c.2748_2757del MANE Select | ENSP00000262407.5:p.Thr917SerfsTer? | |
| ENST00000648408.1:c.2179_2188del | ||
| ENST00000262407.5:c.2748_2757del | ENSP00000262407.5:p.Thr917SerfsTer? | |
| ENST00000587295.5:c.253+742_253+751del | ||
| ENST00000592462.5:n.2022_2031del | ||
| NM_000419.3:c.2748_2757del , LRG_479t1:c.2748_2757del | NP_000410.2:p.Thr917SerfsTer? | |
| XM_011524749.1:c.2748_2757del | XP_011523051.1:p.Thr917SerfsTer? | |
| XM_011524750.1:c.2748_2757del | XP_011523052.1:p.Thr917SerfsTer? | |
| NM_000419.4:c.2748_2757del | NP_000410.2:p.Thr917SerfsTer? | |
| NM_000419.5:c.2748_2757del MANE Select | NP_000410.2:p.Thr917SerfsTer? |