Linked Data
ClinVar Variation Id:
2688452
ClinVar RCV Id:
RCV003490346
dbSNP Id:
rs11386832
gnomAD v2:
5-96121370-T-TA
gnomAD v3:
5-96785666-T-TA
gnomAD v4:
5-96785666-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96785669dup , CM000667.2:g.96785669dup | GRCh38 |
| NC_000005.9:g.96121373dup , CM000667.1:g.96121373dup | GRCh37 |
| NC_000005.8:g.96147129dup | NCBI36 |
| NG_027839.1:g.33478dup | |
| NG_027839.2:g.155317dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.1943+121dup MANE Select | ENSP00000406304.2:n.1943+121dup | |
| ENST00000296754.7:c.1943+121dup | ENSP00000296754.3:n.1943+121dup | |
| ENST00000443439.6:c.1943+121dup | ENSP00000406304.2:n.1943+121dup | |
| ENST00000507859.1:n.727dup | ||
| ENST00000514604.5:n.367+121dup | ||
| NM_001040458.1:c.1943+121dup | NP_001035548.1:n.1943+121dup | |
| NM_001198541.1:c.1943+121dup | NP_001185470.1:n.1943+121dup | |
| NM_016442.3:c.1943+121dup | NP_057526.3:n.1943+121dup | |
| XM_005272015.3:c.1943+121dup | XP_005272072.1:n.1943+121dup | |
| XM_005272016.3:c.1943+121dup | XP_005272073.1:n.1943+121dup | |
| XM_011543480.1:c.1943+121dup | XP_011541782.1:n.1943+121dup | |
| XM_011543481.1:c.1943+121dup | XP_011541783.1:n.1943+121dup | |
| XM_011543482.1:c.1943+121dup | XP_011541784.1:n.1943+121dup | |
| XM_011543483.1:c.1943+121dup | XP_011541785.1:n.1943+121dup | |
| XM_011543484.1:c.1943+121dup | XP_011541786.1:n.1943+121dup | |
| XM_011543485.1:c.1943+121dup | XP_011541787.1:n.1943+121dup | |
| XM_011543486.1:c.1943+121dup | XP_011541788.1:n.1943+121dup | |
| XM_011543487.1:c.1943+121dup | XP_011541789.1:n.1943+121dup | |
| XR_427744.2:n.437dup | ||
| XR_948592.1:n.753dup | ||
| XR_948593.1:n.1061dup | ||
| XR_948594.1:n.735dup | ||
| XR_948595.1:n.745dup | ||
| NM_001040458.2:c.1943+121dup | NP_001035548.1:n.1943+121dup | |
| NM_001198541.2:c.1943+121dup | NP_001185470.1:n.1943+121dup | |
| NM_001349244.1:c.1943+121dup | NP_001336173.1:n.1943+121dup | |
| NM_016442.4:c.1943+121dup | NP_057526.3:n.1943+121dup | |
| XM_005272015.5:c.1943+121dup | XP_005272072.1:n.1943+121dup | |
| XM_005272016.4:c.1943+121dup | XP_005272073.1:n.1943+121dup | |
| XM_011543480.2:c.1943+121dup | XP_011541782.1:n.1943+121dup | |
| XM_011543481.2:c.1943+121dup | XP_011541783.1:n.1943+121dup | |
| XM_011543484.2:c.1943+121dup | XP_011541786.1:n.1943+121dup | |
| XM_011543485.2:c.1943+121dup | XP_011541787.1:n.1943+121dup | |
| XM_011543486.3:c.1943+121dup | XP_011541788.1:n.1943+121dup | |
| XM_017009581.1:c.1943+121dup | XP_016865070.1:n.1943+121dup | |
| XM_017009583.2:c.848+121dup | XP_016865072.1:n.848+121dup | |
| XM_024446113.1:c.1943+121dup | XP_024301881.1:n.1943+121dup | |
| XR_001742119.2:n.2081+121dup | ||
| XR_001742445.1:n.3626dup | ||
| XR_001742446.1:n.1389dup | ||
| NM_001040458.3:c.1943+121dup MANE Select | NP_001035548.1:n.1943+121dup | |
| NM_001198541.3:c.1943+121dup | NP_001185470.1:n.1943+121dup | |
| NM_001349244.2:c.1943+121dup | NP_001336173.1:n.1943+121dup | |
| NM_016442.5:c.1943+121dup | NP_057526.3:n.1943+121dup |