Linked Data
ClinVar Variation Id:
2702063
ClinVar RCV Id:
RCV003577178
dbSNP Id:
rs1560422046
gnomAD v2:
4-6304057-C-CAGCT
gnomAD v4:
4-6302330-C-CAGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302331_6302334dup , CM000666.2:g.6302331_6302334dup | GRCh38 |
| NC_000004.11:g.6304058_6304061dup , CM000666.1:g.6304058_6304061dup | GRCh37 |
| NC_000004.10:g.6354959_6354962dup | NCBI36 |
| NG_011700.1:g.37482_37485dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2572_2575dup | ENSP00000507852.1:p.Cys859Ter | |
| ENST00000683395.1:c.2513_2516dup | ||
| ENST00000684087.1:c.2536_2539dup | ENSP00000506978.1:p.Cys847Ter | |
| ENST00000506362.2:c.2287_2290dup | ENSP00000424103.2:p.Cys764Ter | |
| ENST00000673991.1:c.2572_2575dup | ENSP00000501033.1:p.Cys859Ter | |
| ENST00000226760.5:c.2536_2539dup MANE Select | ENSP00000226760.1:p.Cys847Ter | |
| ENST00000503569.5:c.2536_2539dup | ENSP00000423337.1:p.Cys847Ter | |
| ENST00000507765.1:n.2721_2724dup | ||
| NM_001145853.1:c.2536_2539dup | NP_001139325.1:p.Cys847Ter | |
| NM_006005.3:c.2536_2539dup MANE Select | NP_005996.2:p.Cys847Ter | |
| XM_017008586.1:c.2545_2548dup | XP_016864075.1:p.Cys850Ter |