Linked Data
dbSNP Id:
rs1722199338
gnomAD v3:
4-5565242-AGGTGCCCATCATTACCTC-A
gnomAD v4:
4-5565242-AGGTGCCCATCATTACCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5565243_5565260del , CM000666.2:g.5565243_5565260del | GRCh38 |
| NC_000004.11:g.5566970_5566987del , CM000666.1:g.5566970_5566987del | GRCh37 |
| NC_000004.10:g.5617871_5617888del | NCBI36 |
| NG_015821.1:g.149289_149306del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.3657_3659+15del | ||
| ENST00000310917.6:c.3417_3419+15del | ||
| ENST00000344408.9:c.3657_3659+15del | ||
| ENST00000475313.5:c.3417_3419+15del | ||
| ENST00000509670.1:c.*2050_*2052+15del | ||
| NM_001166136.1:c.3417_3419+15del | ||
| NM_147127.4:c.3657_3659+15del | ||
| XM_011513392.1:c.3666_3668+15del | ||
| XM_011513393.1:c.3666_3668+15del | ||
| XM_011513394.1:c.3426_3428+15del | ||
| XM_017007736.1:c.3417_3419+15del | ||
| XM_017007737.1:c.3417_3419+15del | ||
| XM_017007739.1:c.1977_1979+15del | ||
| XM_024453893.1:c.1977_1979+15del | ||
| XR_001741141.1:n.3507_3509+15del | ||
| NM_147127.5:c.3657_3659+15del | ||
| NM_001166136.2:c.3417_3419+15del |