Linked Data
ClinVar Variation Id:
1071995
dbSNP Id:
rs1403136669
gnomAD v3:
1-216246868-G-GA
gnomAD v4:
1-216246868-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216246871dup , CM000663.2:g.216246871dup | GRCh38 |
| NC_000001.10:g.216420213dup , CM000663.1:g.216420213dup | GRCh37 |
| NC_000001.9:g.214486836dup | NCBI36 |
| NG_009497.1:g.181528dup | |
| NG_009497.2:g.181580dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.2525dup MANE Select | ENSP00000305941.3:p.Leu843ProfsTer8 | |
| ENST00000674083.1:c.2525dup | ENSP00000501296.1:p.Leu843ProfsTer8 | |
| ENST00000307340.7:c.2525dup | ENSP00000305941.3:p.Leu843ProfsTer8 | |
| ENST00000366942.3:c.2525dup | ENSP00000355909.3:p.Leu843ProfsTer8 | |
| NM_007123.5:c.2525dup | NP_009054.5:p.Leu843ProfsTer8 | |
| NM_206933.2:c.2525dup | NP_996816.2:p.Leu843ProfsTer8 | |
| NM_206933.3:c.2525dup | NP_996816.2:p.Leu843ProfsTer8 | |
| NM_007123.6:c.2525dup | NP_009054.6:p.Leu843ProfsTer8 | |
| NM_206933.4:c.2525dup MANE Select | NP_996816.3:p.Leu843ProfsTer8 |