Linked Data
dbSNP Id:
rs1735511697
gnomAD v3:
4-153684319-CTGCTCGGCGTTCTCTCAGGT-C
gnomAD v4:
4-153684319-CTGCTCGGCGTTCTCTCAGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153684320_153684339del , CM000666.2:g.153684320_153684339del | GRCh38 |
| NC_000004.11:g.154605472_154605491del , CM000666.1:g.154605472_154605491del | GRCh37 |
| NC_000004.10:g.154824922_154824941del | NCBI36 |
| NG_016229.1:g.5032_5051del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643501.2:c.-413_-394del | ENSP00000496208.2:n.-413_-394del | |
| ENST00000646219.2:c.-487_-468del | ENSP00000496676.2:n.-487_-468del | |
| ENST00000646900.2:c.-188_-169del | ENSP00000493968.2:n.-188_-169del | |
| ENST00000642580.1:c.-129_-110del | ENSP00000495339.1:n.-129_-110del | |
| ENST00000642700.2:c.-203_-184del MANE Select | ENSP00000494425.1:n.-203_-184del | |
| ENST00000643501.1:c.-413_-394del | ENSP00000496208.1:n.-413_-394del | |
| ENST00000645889.1:n.31_50del | ||
| ENST00000646219.1:c.-487_-468del | ENSP00000496676.1:n.-487_-468del | |
| ENST00000646900.1:c.-188_-169del | ENSP00000493968.1:n.-188_-169del | |
| NM_003264.3:c.-188_-169del | NP_003255.2:n.-188_-169del | |
| XM_005263194.2:c.-203_-184del | XP_005263251.1:n.-203_-184del | |
| XM_005263195.2:c.-129_-110del | XP_005263252.1:n.-129_-110del | |
| XM_005263196.2:c.-169_-150del | XP_005263253.1:n.-169_-150del | |
| XM_005263197.2:c.-144_-125del | XP_005263254.1:n.-144_-125del | |
| XM_011532215.1:c.-110_-91del | XP_011530517.1:n.-110_-91del | |
| XM_011532216.1:c.-57_-38del | XP_011530518.1:n.-57_-38del | |
| NM_001318787.1:c.-413_-394del | NP_001305716.1:n.-413_-394del | |
| NM_001318789.1:c.-203_-184del | NP_001305718.1:n.-203_-184del | |
| NM_001318790.1:c.-180_-163+2del | ||
| NM_001318791.1:c.-169_-150del | NP_001305720.1:n.-169_-150del | |
| NM_001318793.1:c.-165_-148+2del | ||
| NM_001318795.1:c.-144_-125del | NP_001305724.1:n.-144_-125del | |
| NM_001318796.1:c.-129_-110del | NP_001305725.1:n.-129_-110del | |
| NM_003264.4:c.-188_-169del | NP_003255.2:n.-188_-169del | |
| XM_011532215.2:c.-110_-91del | XP_011530517.1:n.-110_-91del | |
| XM_011532216.2:c.-57_-38del | XP_011530518.1:n.-57_-38del | |
| XM_017008573.1:c.-487_-468del | XP_016864062.1:n.-487_-468del | |
| XM_017008574.1:c.-338_-319del | XP_016864063.1:n.-338_-319del | |
| XM_017008575.1:c.-382_-363del | XP_016864064.1:n.-382_-363del | |
| NM_001318787.2:c.-413_-394del | NP_001305716.1:n.-413_-394del | |
| NM_001318789.2:c.-203_-184del MANE Select | NP_001305718.1:n.-203_-184del | |
| NM_001318790.2:c.-180_-163+2del | ||
| NM_001318791.2:c.-169_-150del | NP_001305720.1:n.-169_-150del | |
| NM_001318793.2:c.-165_-148+2del | ||
| NM_001318795.2:c.-144_-125del | NP_001305724.1:n.-144_-125del | |
| NM_001318796.2:c.-129_-110del | NP_001305725.1:n.-129_-110del | |
| NM_003264.5:c.-188_-169del | NP_003255.2:n.-188_-169del |