Linked Data
ClinVar Variation Id:
652541
ClinVar RCV Id:
RCV000808112
dbSNP Id:
rs193922149
gnomAD v4:
17-50190327-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50190333dup , CM000679.2:g.50190333dup | GRCh38 |
| NC_000017.10:g.48267694dup , CM000679.1:g.48267694dup | GRCh37 |
| NC_000017.9:g.45622693dup | NCBI36 |
| NG_007400.1:g.16312dup , LRG_1:g.16312dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.2450dup MANE Select | ENSP00000225964.6:p.Gly818TrpfsTer3 | |
| ENST00000225964.9:c.2450dup | ENSP00000225964.5:p.Gly818TrpfsTer3 | |
| ENST00000494334.1:n.377dup | ||
| NM_000088.3:c.2450dup , LRG_1t1:c.2450dup | NP_000079.2:p.Gly818TrpfsTer3 | |
| XM_005257058.3:c.2450dup | XP_005257115.2:p.Gly818TrpfsTer3 | |
| XM_005257059.3:c.1532dup | XP_005257116.2:p.Gly512TrpfsTer3 | |
| XM_011524341.1:c.2252dup | XP_011522643.1:p.Gly752TrpfsTer3 | |
| XM_005257058.4:c.2450dup | XP_005257115.2:p.Gly818TrpfsTer3 | |
| XM_005257059.4:c.1532dup | XP_005257116.2:p.Gly512TrpfsTer3 | |
| NM_000088.4:c.2450dup MANE Select | NP_000079.2:p.Gly818TrpfsTer3 |