Linked Data
ClinVar Variation Id:
126697
dbSNP Id:
rs180177127
gnomAD v4:
16-23622982-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23622985dup , CM000678.2:g.23622985dup | GRCh38 |
| NC_000016.9:g.23634306dup , CM000678.1:g.23634306dup | GRCh37 |
| NC_000016.8:g.23541807dup | NCBI36 |
| NG_007406.1:g.23375dup , LRG_308:g.23375dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.2988dup | ENSP00000460666.3:p.Ala997CysfsTer16 | |
| ENST00000565038.2:c.*463dup | ENSP00000459882.2:n.*463dup | |
| ENST00000566069.6:c.2982dup | ENSP00000459237.2:p.Ala995CysfsTer16 | |
| ENST00000697377.2:c.2826dup | ENSP00000513286.2:p.Ala943CysfsTer16 | |
| ENST00000697379.2:c.2988dup | ENSP00000513287.2:p.Ala997CysfsTer16 | |
| ENST00000561514.2:c.2097dup | ENSP00000460666.2:p.Ala700CysfsTer16 | |
| ENST00000697374.1:c.2097dup | ENSP00000513284.1:p.Ala700CysfsTer16 | |
| ENST00000697375.1:n.4329dup | ||
| ENST00000697376.1:c.2097dup | ENSP00000513285.1:p.Ala700CysfsTer16 | |
| ENST00000697377.1:c.1935dup | ENSP00000513286.1:p.Ala646CysfsTer16 | |
| ENST00000697378.1:n.3502dup | ||
| ENST00000697379.1:c.2097dup | ENSP00000513287.1:p.Ala700CysfsTer16 | |
| ENST00000697380.1:n.2274dup | ||
| ENST00000697381.1:n.1677dup | ||
| ENST00000697382.1:c.2097dup | ENSP00000513288.1:p.Ala700CysfsTer16 | |
| ENST00000697383.1:c.516dup | ENSP00000513289.1:p.Ala173CysfsTer16 | |
| ENST00000261584.9:c.2982dup MANE Select | ENSP00000261584.4:p.Ala995CysfsTer16 | |
| ENST00000261584.8:c.2982dup | ENSP00000261584.4:p.Ala995CysfsTer16 | |
| ENST00000568219.5:c.2097dup | ENSP00000454703.2:p.Ala700CysfsTer16 | |
| NM_024675.3:c.2982dup , LRG_308t1:c.2982dup | NP_078951.2:p.Ala995CysfsTer16 | |
| XM_011545946.1:c.2988dup | XP_011544248.1:p.Ala997CysfsTer16 | |
| XM_011545947.1:c.2988dup | XP_011544249.1:p.Ala997CysfsTer16 | |
| XM_011545948.1:c.2097dup | XP_011544250.1:p.Ala700CysfsTer16 | |
| XR_950851.1:n.3778dup | ||
| XM_011545946.2:c.2988dup | XP_011544248.1:p.Ala997CysfsTer16 | |
| XM_011545947.2:c.2988dup | XP_011544249.1:p.Ala997CysfsTer16 | |
| XM_011545948.2:c.2097dup | XP_011544250.1:p.Ala700CysfsTer16 | |
| XM_017023671.1:c.2988dup | XP_016879160.1:p.Ala997CysfsTer16 | |
| XM_017023672.2:c.2982dup | XP_016879161.1:p.Ala995CysfsTer16 | |
| XM_017023673.2:c.2982dup | XP_016879162.1:p.Ala995CysfsTer16 | |
| NM_024675.4:c.2982dup MANE Select | NP_078951.2:p.Ala995CysfsTer16 |