Linked Data
ClinVar Variation Id:
2832631
ClinVar RCV Id:
RCV003689607
dbSNP Id:
rs763294076
ExAC:
4:6304073 A / ATG
gnomAD v2:
4-6304073-A-ATG
gnomAD v4:
4-6302346-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302347_6302348dup , CM000666.2:g.6302347_6302348dup | GRCh38 |
| NC_000004.11:g.6304074_6304075dup , CM000666.1:g.6304074_6304075dup | GRCh37 |
| NC_000004.10:g.6354975_6354976dup | NCBI36 |
| NG_011700.1:g.37498_37499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2588_2589dup | ENSP00000507852.1:p.Ala864TrpfsTer11 | |
| ENST00000683395.1:c.2529_2530dup | ||
| ENST00000684087.1:c.2552_2553dup | ENSP00000506978.1:p.Ala852TrpfsTer11 | |
| ENST00000506362.2:c.2303_2304dup | ENSP00000424103.2:p.Ala769TrpfsTer11 | |
| ENST00000673991.1:c.2588_2589dup | ENSP00000501033.1:p.Ala864TrpfsTer11 | |
| ENST00000226760.5:c.2552_2553dup MANE Select | ENSP00000226760.1:p.Ala852TrpfsTer11 | |
| ENST00000503569.5:c.2552_2553dup | ENSP00000423337.1:p.Ala852TrpfsTer11 | |
| ENST00000507765.1:n.2737_2738dup | ||
| NM_001145853.1:c.2552_2553dup | NP_001139325.1:p.Ala852TrpfsTer11 | |
| NM_006005.3:c.2552_2553dup MANE Select | NP_005996.2:p.Ala852TrpfsTer11 | |
| XM_017008586.1:c.2561_2562dup | XP_016864075.1:p.Ala855TrpfsTer11 |