Linked Data
dbSNP Id:
rs111200466
gnomAD v2:
4-154605463-CCAGGCGGCTGCTCGGCGTTCTCT-C
gnomAD v3:
4-153684311-CCAGGCGGCTGCTCGGCGTTCTCT-C
gnomAD v4:
4-153684311-CCAGGCGGCTGCTCGGCGTTCTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153684316_153684338del , CM000666.2:g.153684316_153684338del | GRCh38 |
| NC_000004.11:g.154605468_154605490del , CM000666.1:g.154605468_154605490del | GRCh37 |
| NC_000004.10:g.154824918_154824940del | NCBI36 |
| NG_016229.1:g.5028_5050del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643501.2:c.-417_-395del | ENSP00000496208.2:n.-417_-395del | |
| ENST00000646219.2:c.-491_-469del | ENSP00000496676.2:n.-491_-469del | |
| ENST00000646900.2:c.-192_-170del | ENSP00000493968.2:n.-192_-170del | |
| ENST00000642580.1:c.-133_-111del | ENSP00000495339.1:n.-133_-111del | |
| ENST00000642700.2:c.-207_-185del MANE Select | ENSP00000494425.1:n.-207_-185del | |
| ENST00000643501.1:c.-417_-395del | ENSP00000496208.1:n.-417_-395del | |
| ENST00000645889.1:n.27_49del | ||
| ENST00000646219.1:c.-491_-469del | ENSP00000496676.1:n.-491_-469del | |
| ENST00000646900.1:c.-192_-170del | ENSP00000493968.1:n.-192_-170del | |
| NM_003264.3:c.-192_-170del | NP_003255.2:n.-192_-170del | |
| XM_005263194.2:c.-207_-185del | XP_005263251.1:n.-207_-185del | |
| XM_005263195.2:c.-133_-111del | XP_005263252.1:n.-133_-111del | |
| XM_005263196.2:c.-173_-151del | XP_005263253.1:n.-173_-151del | |
| XM_005263197.2:c.-148_-126del | XP_005263254.1:n.-148_-126del | |
| XM_011532215.1:c.-114_-92del | XP_011530517.1:n.-114_-92del | |
| XM_011532216.1:c.-61_-39del | XP_011530518.1:n.-61_-39del | |
| NM_001318787.1:c.-417_-395del | NP_001305716.1:n.-417_-395del | |
| NM_001318789.1:c.-207_-185del | NP_001305718.1:n.-207_-185del | |
| NM_001318790.1:c.-184_-163+1del | ||
| NM_001318791.1:c.-173_-151del | NP_001305720.1:n.-173_-151del | |
| NM_001318793.1:c.-169_-148+1del | ||
| NM_001318795.1:c.-148_-126del | NP_001305724.1:n.-148_-126del | |
| NM_001318796.1:c.-133_-111del | NP_001305725.1:n.-133_-111del | |
| NM_003264.4:c.-192_-170del | NP_003255.2:n.-192_-170del | |
| XM_011532215.2:c.-114_-92del | XP_011530517.1:n.-114_-92del | |
| XM_011532216.2:c.-61_-39del | XP_011530518.1:n.-61_-39del | |
| XM_017008573.1:c.-491_-469del | XP_016864062.1:n.-491_-469del | |
| XM_017008574.1:c.-342_-320del | XP_016864063.1:n.-342_-320del | |
| XM_017008575.1:c.-386_-364del | XP_016864064.1:n.-386_-364del | |
| NM_001318787.2:c.-417_-395del | NP_001305716.1:n.-417_-395del | |
| NM_001318789.2:c.-207_-185del MANE Select | NP_001305718.1:n.-207_-185del | |
| NM_001318790.2:c.-184_-163+1del | ||
| NM_001318791.2:c.-173_-151del | NP_001305720.1:n.-173_-151del | |
| NM_001318793.2:c.-169_-148+1del | ||
| NM_001318795.2:c.-148_-126del | NP_001305724.1:n.-148_-126del | |
| NM_001318796.2:c.-133_-111del | NP_001305725.1:n.-133_-111del | |
| NM_003264.5:c.-192_-170del | NP_003255.2:n.-192_-170del |