Linked Data
dbSNP Id:
rs1969801893
gnomAD v3:
17-4898466-T-TGGGAGGTCAGCAAGGCTGAATGAA
gnomAD v4:
17-4898466-T-TGGGAGGTCAGCAAGGCTGAATGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898470_4898493dup , CM000679.2:g.4898470_4898493dup | GRCh38 |
| NC_000017.10:g.4801765_4801788dup , CM000679.1:g.4801765_4801788dup | GRCh37 |
| NC_000017.9:g.4742544_4742567dup | NCBI36 |
| NG_008029.2:g.9586_9609dup | |
| NG_028005.1:g.70131_70154dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*246_*269dup MANE Select | ENSP00000497829.1:n.*246_*269dup | |
| ENST00000649830.1:c.*364_*387dup | ENSP00000496907.1:n.*364_*387dup | |
| ENST00000652550.1:n.1454_1477dup | ||
| ENST00000293780.4:c.*246_*269dup | ENSP00000293780.4:n.*246_*269dup | |
| ENST00000572438.1:n.1414_1437dup | ||
| NM_000080.3:c.*246_*269dup | NP_000071.1:n.*246_*269dup | |
| NM_000080.4:c.*246_*269dup MANE Select | NP_000071.1:n.*246_*269dup | |
| XM_017024115.1:c.*246_*269dup | XP_016879604.1:n.*246_*269dup |