Linked Data
dbSNP Id:
rs767608146
ExAC:
19:1047360 G / GGTGGCCGC
gnomAD v2:
19-1047360-G-GGTGGCCGC
gnomAD v4:
19-1047361-G-GGTGGCCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1047371_1047378dup , CM000681.2:g.1047371_1047378dup | GRCh38 |
| NC_000019.9:g.1047370_1047377dup , CM000681.1:g.1047370_1047377dup | GRCh37 |
| NC_000019.8:g.998370_998377dup | NCBI36 |
| NG_046909.1:g.12269_12276dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263094.11:c.2060_2067dup MANE Select | ENSP00000263094.6:p.Ser690TrpfsTer? | |
| ENST00000433129.6:n.2740_2747dup | ||
| ENST00000263094.10:c.2060_2067dup | ENSP00000263094.6:p.Ser690TrpfsTer? | |
| ENST00000433129.5:c.2060_2067dup | ENSP00000414062.1:p.Ser690TrpfsTer? | |
| ENST00000435683.6:c.1646_1653dup | ENSP00000465322.1:p.Ser552TrpfsTer? | |
| ENST00000533574.1:n.478_485dup | ||
| NM_019112.3:c.2060_2067dup | NP_061985.2:p.Ser690TrpfsTer? | |
| XM_006722616.1:c.2060_2067dup | XP_006722679.1:p.Ser690TrpfsTer? | |
| XM_006722617.2:c.2060_2067dup | XP_006722680.1:p.Ser690TrpfsTer? | |
| XM_011527628.1:c.2060_2067dup | XP_011525930.1:p.Ser690TrpfsTer? | |
| XM_011527629.1:c.2060_2067dup | XP_011525931.1:p.Ser690TrpfsTer? | |
| XM_011527630.1:c.2060_2067dup | XP_011525932.1:p.Ser690TrpfsTer? | |
| XM_011527631.1:c.2060_2067dup | XP_011525933.1:p.Ser690TrpfsTer? | |
| XM_011527632.1:c.1604_1611dup | XP_011525934.1:p.Ser538TrpfsTer? | |
| XM_011527633.1:c.2060_2067dup | XP_011525935.1:p.Ser690TrpfsTer? | |
| XM_011527634.1:c.2060_2067dup | XP_011525936.1:p.Ser690TrpfsTer? | |
| XM_011527635.1:c.2060_2067dup | XP_011525937.1:p.Ser690TrpfsTer? | |
| XR_936148.1:n.2278_2285dup | ||
| XR_936149.1:n.2278_2285dup | ||
| XR_936150.1:n.2278_2285dup | ||
| XR_936151.1:n.2278_2285dup | ||
| XR_936152.1:n.2278_2285dup | ||
| XR_936153.1:n.2278_2285dup | ||
| XR_936154.1:n.2278_2285dup | ||
| XR_936155.1:n.2278_2285dup | ||
| XM_011527633.2:c.2060_2067dup | XP_011525935.1:p.Ser690TrpfsTer? | |
| XM_017026143.1:c.2060_2067dup | XP_016881632.1:p.Ser690TrpfsTer? | |
| XM_024451315.1:c.2060_2067dup | XP_024307083.1:p.Ser690TrpfsTer? | |
| XM_024451316.1:c.2060_2067dup | XP_024307084.1:p.Ser690TrpfsTer? | |
| XM_024451317.1:c.2060_2067dup | XP_024307085.1:p.Ser690TrpfsTer? | |
| XM_024451318.1:c.2060_2067dup | XP_024307086.1:p.Ser690TrpfsTer? | |
| XM_024451319.1:c.2060_2067dup | XP_024307087.1:p.Ser690TrpfsTer? | |
| XM_024451320.1:c.2060_2067dup | XP_024307088.1:p.Ser690TrpfsTer? | |
| XM_024451321.1:c.2060_2067dup | XP_024307089.1:p.Ser690TrpfsTer? | |
| XM_024451322.1:c.1604_1611dup | XP_024307090.1:p.Ser538TrpfsTer? | |
| XM_024451323.1:c.2060_2067dup | XP_024307091.1:p.Ser690TrpfsTer? | |
| XR_001753585.1:n.2278_2285dup | ||
| XR_001753586.1:n.2278_2285dup | ||
| XR_002958240.1:n.2278_2285dup | ||
| XR_002958241.1:n.2278_2285dup | ||
| XR_002958242.1:n.2278_2285dup | ||
| NM_019112.4:c.2060_2067dup MANE Select | NP_061985.2:p.Ser690TrpfsTer? |