Linked Data
ClinVar Variation Id:
1169564
ClinVar RCV Id:
RCV003538803
dbSNP Id:
rs1750574582
gnomAD v4:
5-112707546-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707551dup , CM000667.2:g.112707551dup | GRCh38 |
| NC_000005.9:g.112043248dup , CM000667.1:g.112043248dup | GRCh37 |
| NC_000005.8:g.112071147dup | NCBI36 |
| NG_008481.4:g.20031dup , LRG_130:g.20031dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-167dup | ENSP00000481752.1:n.-167dup | |
| ENST00000507379.6:c.-167dup | ENSP00000423224.2:n.-167dup | |
| ENST00000509732.6:c.-117dup | ENSP00000426541.2:n.-117dup | |
| ENST00000505350.1:c.-167dup | ENSP00000481752.1:n.-167dup | |
| ENST00000507379.5:c.-167dup | ENSP00000423224.1:n.-167dup | |
| ENST00000509732.5:c.-117dup | ENSP00000426541.1:n.-117dup | |
| NM_001127511.2:c.-167dup | NP_001120983.2:n.-167dup | |
| NM_001354895.1:c.-350dup | NP_001341824.1:n.-350dup | |
| NM_001354897.1:c.-167dup | NP_001341826.1:n.-167dup | |
| NM_001354902.1:c.-167dup | NP_001341831.1:n.-167dup | |
| NM_001127511.3:c.-167dup | NP_001120983.2:n.-167dup | |
| NM_001354895.2:c.-350dup | NP_001341824.1:n.-350dup | |
| NM_001354897.2:c.-167dup | NP_001341826.1:n.-167dup | |
| NM_001354902.2:c.-167dup | NP_001341831.1:n.-167dup |