Linked Data
dbSNP Id:
rs1553157334
gnomAD v2:
1-65298731-T-TATC
gnomAD v3:
1-64833048-T-TATC
gnomAD v4:
1-64833048-T-TATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833050_64833052dup , CM000663.2:g.64833050_64833052dup | GRCh38 |
| NC_000001.10:g.65298733_65298735dup , CM000663.1:g.65298733_65298735dup | GRCh37 |
| NC_000001.9:g.65071321_65071323dup | NCBI36 |
| NG_023402.1:g.138454_138456dup | |
| NG_023402.2:g.239696_239698dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2065_*2067dup MANE Select | ENSP00000294428.3:n.*2065_*2067dup | |
| ENST00000294428.7:c.*2065_*2067dup | ENSP00000294428.3:n.*2065_*2067dup | |
| ENST00000371072.8:c.*2065_*2067dup | ENSP00000360112.4:n.*2065_*2067dup | |
| NM_018211.3:c.*2065_*2067dup | NP_060681.2:n.*2065_*2067dup | |
| XM_006710738.2:c.*2065_*2067dup | XP_006710801.2:n.*2065_*2067dup | |
| NM_001366165.1:c.*2065_*2067dup | NP_001353094.1:n.*2065_*2067dup | |
| XR_946693.3:n.4484_4486dup | ||
| NM_018211.4:c.*2065_*2067dup | NP_060681.2:n.*2065_*2067dup | |
| NM_001366165.2:c.*2065_*2067dup MANE Select | NP_001353094.1:n.*2065_*2067dup |