Linked Data
ClinVar Variation Id:
402302
dbSNP Id:
rs1060499823
gnomAD v3:
16-23624010-TG-T
gnomAD v4:
16-23624010-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23624011del , CM000678.2:g.23624011del | GRCh38 |
| NC_000016.9:g.23635332del , CM000678.1:g.23635332del | GRCh37 |
| NC_000016.8:g.23542833del | NCBI36 |
| NG_007406.1:g.22347del , LRG_308:g.22347del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2838del | ENSP00000460666.3:p.Arg947GlyfsTer17 | |
| ENST00000565038.2:c.*313del | ENSP00000459882.2:n.*313del | |
| ENST00000566069.6:c.2832del | ENSP00000459237.2:p.Arg945GlyfsTer17 | |
| ENST00000697377.2:c.2676del | ENSP00000513286.2:p.Arg893GlyfsTer17 | |
| ENST00000697379.2:c.2838del | ENSP00000513287.2:p.Arg947GlyfsTer17 | |
| ENST00000561514.2:c.1947del | ENSP00000460666.2:p.Arg650GlyfsTer17 | |
| ENST00000697374.1:c.1947del | ENSP00000513284.1:p.Arg650GlyfsTer17 | |
| ENST00000697375.1:n.4179del | ||
| ENST00000697376.1:c.1947del | ENSP00000513285.1:p.Arg650GlyfsTer17 | |
| ENST00000697377.1:c.1785del | ENSP00000513286.1:p.Arg596GlyfsTer17 | |
| ENST00000697378.1:n.3352del | ||
| ENST00000697379.1:c.1947del | ENSP00000513287.1:p.Arg650GlyfsTer17 | |
| ENST00000697380.1:n.2124del | ||
| ENST00000697381.1:n.1527del | ||
| ENST00000697382.1:c.1947del | ENSP00000513288.1:p.Arg650GlyfsTer17 | |
| ENST00000697383.1:c.366del | ENSP00000513289.1:p.Arg123GlyfsTer17 | |
| ENST00000261584.9:c.2832del MANE Select | ENSP00000261584.4:p.Arg945GlyfsTer17 | |
| ENST00000261584.8:c.2832del | ENSP00000261584.4:p.Arg945GlyfsTer17 | |
| ENST00000568219.5:c.1947del | ENSP00000454703.2:p.Arg650GlyfsTer17 | |
| NM_024675.3:c.2832del , LRG_308t1:c.2832del | NP_078951.2:p.Arg945GlyfsTer17 | |
| XM_011545946.1:c.2838del | XP_011544248.1:p.Arg947GlyfsTer17 | |
| XM_011545947.1:c.2838del | XP_011544249.1:p.Arg947GlyfsTer17 | |
| XM_011545948.1:c.1947del | XP_011544250.1:p.Arg650GlyfsTer17 | |
| XR_950851.1:n.3628del | ||
| XM_011545946.2:c.2838del | XP_011544248.1:p.Arg947GlyfsTer17 | |
| XM_011545947.2:c.2838del | XP_011544249.1:p.Arg947GlyfsTer17 | |
| XM_011545948.2:c.1947del | XP_011544250.1:p.Arg650GlyfsTer17 | |
| XM_017023671.1:c.2838del | XP_016879160.1:p.Arg947GlyfsTer17 | |
| XM_017023672.2:c.2832del | XP_016879161.1:p.Arg945GlyfsTer17 | |
| XM_017023673.2:c.2832del | XP_016879162.1:p.Arg945GlyfsTer17 | |
| NM_024675.4:c.2832del MANE Select | NP_078951.2:p.Arg945GlyfsTer17 |