Linked Data
ClinVar Variation Id:
126696
dbSNP Id:
rs180177126
gnomAD v3:
16-23623043-CTT-C
gnomAD v4:
16-23623043-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23623045_23623046del , CM000678.2:g.23623045_23623046del | GRCh38 |
| NC_000016.9:g.23634366_23634367del , CM000678.1:g.23634366_23634367del | GRCh37 |
| NC_000016.8:g.23541867_23541868del | NCBI36 |
| NG_007406.1:g.23313_23314del , LRG_308:g.23313_23314del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2926_2927del | ENSP00000460666.3:p.Lys976GlufsTer5 | |
| ENST00000565038.2:c.*401_*402del | ENSP00000459882.2:n.*401_*402del | |
| ENST00000566069.6:c.2920_2921del | ENSP00000459237.2:p.Lys974GlufsTer5 | |
| ENST00000697377.2:c.2764_2765del | ENSP00000513286.2:p.Lys922GlufsTer5 | |
| ENST00000697379.2:c.2926_2927del | ENSP00000513287.2:p.Lys976GlufsTer5 | |
| ENST00000561514.2:c.2035_2036del | ENSP00000460666.2:p.Lys679GlufsTer5 | |
| ENST00000697374.1:c.2035_2036del | ENSP00000513284.1:p.Lys679GlufsTer5 | |
| ENST00000697375.1:n.4267_4268del | ||
| ENST00000697376.1:c.2035_2036del | ENSP00000513285.1:p.Lys679GlufsTer5 | |
| ENST00000697377.1:c.1873_1874del | ENSP00000513286.1:p.Lys625GlufsTer5 | |
| ENST00000697378.1:n.3440_3441del | ||
| ENST00000697379.1:c.2035_2036del | ENSP00000513287.1:p.Lys679GlufsTer5 | |
| ENST00000697380.1:n.2212_2213del | ||
| ENST00000697381.1:n.1615_1616del | ||
| ENST00000697382.1:c.2035_2036del | ENSP00000513288.1:p.Lys679GlufsTer5 | |
| ENST00000697383.1:c.454_455del | ENSP00000513289.1:p.Lys152GlufsTer5 | |
| ENST00000261584.9:c.2920_2921del MANE Select | ENSP00000261584.4:p.Lys974GlufsTer5 | |
| ENST00000261584.8:c.2920_2921del | ENSP00000261584.4:p.Lys974GlufsTer5 | |
| ENST00000568219.5:c.2035_2036del | ENSP00000454703.2:p.Lys679GlufsTer5 | |
| NM_024675.3:c.2920_2921del , LRG_308t1:c.2920_2921del | NP_078951.2:p.Lys974GlufsTer5 | |
| XM_011545946.1:c.2926_2927del | XP_011544248.1:p.Lys976GlufsTer5 | |
| XM_011545947.1:c.2926_2927del | XP_011544249.1:p.Lys976GlufsTer5 | |
| XM_011545948.1:c.2035_2036del | XP_011544250.1:p.Lys679GlufsTer5 | |
| XR_950851.1:n.3716_3717del | ||
| XM_011545946.2:c.2926_2927del | XP_011544248.1:p.Lys976GlufsTer5 | |
| XM_011545947.2:c.2926_2927del | XP_011544249.1:p.Lys976GlufsTer5 | |
| XM_011545948.2:c.2035_2036del | XP_011544250.1:p.Lys679GlufsTer5 | |
| XM_017023671.1:c.2926_2927del | XP_016879160.1:p.Lys976GlufsTer5 | |
| XM_017023672.2:c.2920_2921del | XP_016879161.1:p.Lys974GlufsTer5 | |
| XM_017023673.2:c.2920_2921del | XP_016879162.1:p.Lys974GlufsTer5 | |
| NM_024675.4:c.2920_2921del MANE Select | NP_078951.2:p.Lys974GlufsTer5 |