Linked Data
ClinVar Variation Id:
1685187
ClinVar RCV Id:
RCV002248914
dbSNP Id:
rs762799819
ExAC:
8:72981375 G / GT
gnomAD v2:
8-72981375-G-GT
gnomAD v3:
8-72069140-G-GT
gnomAD v4:
8-72069140-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72069147dup , CM000670.2:g.72069147dup | GRCh38 |
| NC_000008.10:g.72981382dup , CM000670.1:g.72981382dup | GRCh37 |
| NC_000008.9:g.73143936dup | NCBI36 |
| NG_033890.1:g.11444dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262209.5:c.326dup MANE Select | ENSP00000262209.4:p.Asn109LysfsTer4 | |
| ENST00000262209.4:c.326dup | ENSP00000262209.4:p.Asn109LysfsTer4 | |
| NM_007332.2:c.326dup | NP_015628.2:p.Asn109LysfsTer4 | |
| XM_011517624.1:c.401dup | XP_011515926.1:p.Asn134LysfsTer4 | |
| XM_011517625.1:c.326dup | XP_011515927.1:p.Asn109LysfsTer4 | |
| XM_011517624.2:c.401dup | XP_011515926.1:p.Asn134LysfsTer4 | |
| XM_011517625.2:c.326dup | XP_011515927.1:p.Asn109LysfsTer4 | |
| XM_017013946.1:c.326dup | XP_016869435.1:p.Asn109LysfsTer4 | |
| NM_007332.3:c.326dup MANE Select | NP_015628.2:p.Asn109LysfsTer4 |