Linked Data
dbSNP Id:
rs1914289605
gnomAD v3:
17-4710668-G-GGCGAGGAGGCTGCGA
gnomAD v4:
17-4710668-G-GGCGAGGAGGCTGCGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4710674_4710688dup , CM000679.2:g.4710674_4710688dup | GRCh38 |
| NC_000017.10:g.4613969_4613983dup , CM000679.1:g.4613969_4613983dup | GRCh37 |
| NC_000017.9:g.4560718_4560732dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269260.7:c.-48_-34dup MANE Select | ENSP00000269260.2:n.-48_-34dup | |
| ENST00000269260.6:c.-48_-34dup | ENSP00000269260.2:n.-48_-34dup | |
| ENST00000346341.6:c.-48_-34dup | ENSP00000341895.2:n.-48_-34dup | |
| ENST00000570718.5:n.43_57dup | ||
| ENST00000570739.5:n.43_57dup | ||
| ENST00000572457.5:c.-532_-518dup | ENSP00000465296.1:n.-532_-518dup | |
| ENST00000574502.5:c.-48_-34dup | ENSP00000458371.1:n.-48_-34dup | |
| ENST00000574888.5:n.20_34dup | ||
| ENST00000574954.5:c.-593_-579dup | ENSP00000466344.1:n.-593_-579dup | |
| ENST00000575131.5:n.14_28dup | ||
| NM_001257328.1:c.-48_-34dup | NP_001244257.1:n.-48_-34dup | |
| NM_001257329.1:c.-48_-34dup | NP_001244258.1:n.-48_-34dup | |
| NM_001257330.1:c.-48_-34dup | NP_001244259.1:n.-48_-34dup | |
| NM_001257331.1:c.-48_-34dup | NP_001244260.1:n.-48_-34dup | |
| NM_004313.3:c.-48_-34dup | NP_004304.1:n.-48_-34dup | |
| NM_199004.1:c.-48_-34dup | NP_945355.1:n.-48_-34dup | |
| NR_047516.1:n.181_195dup | ||
| XM_006721520.1:c.-548_-534dup | XP_006721583.1:n.-548_-534dup | |
| NM_001330064.1:c.-548_-534dup | NP_001316993.1:n.-548_-534dup | |
| XM_024450751.1:c.-48_-34dup | XP_024306519.1:n.-48_-34dup | |
| XM_024450752.1:c.-593_-579dup | XP_024306520.1:n.-593_-579dup | |
| XM_024450753.1:c.-548_-534dup | XP_024306521.1:n.-548_-534dup | |
| XR_002958006.1:n.45_59dup | ||
| XR_002958007.1:n.45_59dup | ||
| NM_004313.4:c.-48_-34dup MANE Select | NP_004304.1:n.-48_-34dup | |
| NM_001257328.2:c.-48_-34dup | NP_001244257.1:n.-48_-34dup | |
| NM_001257329.2:c.-48_-34dup | NP_001244258.1:n.-48_-34dup | |
| NM_001257330.2:c.-48_-34dup | NP_001244259.1:n.-48_-34dup | |
| NM_001257331.2:c.-48_-34dup | NP_001244260.1:n.-48_-34dup | |
| NM_001330064.2:c.-548_-534dup | NP_001316993.1:n.-548_-534dup | |
| NM_199004.2:c.-48_-34dup | NP_945355.1:n.-48_-34dup | |
| NR_047516.2:n.43_57dup |