Linked Data
ClinVar Variation Id:
989026
dbSNP Id:
rs747514385
ExAC:
8:65528783 A / AT
gnomAD v2:
8-65528783-A-AT
gnomAD v4:
8-64616226-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616232dup , CM000670.2:g.64616232dup | GRCh38 |
| NC_000008.10:g.65528789dup , CM000670.1:g.65528789dup | GRCh37 |
| NC_000008.9:g.65691343dup | NCBI36 |
| NG_008338.1:g.187565dup | |
| NG_008338.2:g.187565dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.314dup MANE Select | ENSP00000310721.3:p.Asn105LysfsTer3 | |
| ENST00000310193.3:c.314dup | ENSP00000310721.3:p.Asn105LysfsTer3 | |
| NM_004820.3:c.314dup | NP_004811.1:p.Asn105LysfsTer3 | |
| NM_001324112.1:c.314dup | NP_001311041.1:p.Asn105LysfsTer3 | |
| NM_004820.4:c.314dup | NP_004811.1:p.Asn105LysfsTer3 | |
| XM_017014002.1:c.380dup | XP_016869491.1:p.Asn127LysfsTer3 | |
| NM_004820.5:c.314dup MANE Select | NP_004811.1:p.Asn105LysfsTer3 | |
| NM_001324112.2:c.314dup | NP_001311041.1:p.Asn105LysfsTer3 |