Linked Data
dbSNP Id:
rs1396223584
gnomAD v2:
1-65298745-C-CACA
gnomAD v3:
1-64833062-C-CACA
gnomAD v4:
1-64833062-C-CACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.64833066_64833068dup , CM000663.2:g.64833066_64833068dup | GRCh38 |
| NC_000001.10:g.65298749_65298751dup , CM000663.1:g.65298749_65298751dup | GRCh37 |
| NC_000001.9:g.65071337_65071339dup | NCBI36 |
| NG_023402.1:g.138440_138442dup | |
| NG_023402.2:g.239682_239684dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294428.8:c.*2081_*2083dup MANE Select | ENSP00000294428.3:n.*2081_*2083dup | |
| ENST00000294428.7:c.*2081_*2083dup | ENSP00000294428.3:n.*2081_*2083dup | |
| ENST00000371072.8:c.*2081_*2083dup | ENSP00000360112.4:n.*2081_*2083dup | |
| NM_018211.3:c.*2081_*2083dup | NP_060681.2:n.*2081_*2083dup | |
| XM_006710738.2:c.*2081_*2083dup | XP_006710801.2:n.*2081_*2083dup | |
| NM_001366165.1:c.*2081_*2083dup | NP_001353094.1:n.*2081_*2083dup | |
| XR_946693.3:n.4500_4502dup | ||
| NM_018211.4:c.*2081_*2083dup | NP_060681.2:n.*2081_*2083dup | |
| NM_001366165.2:c.*2081_*2083dup MANE Select | NP_001353094.1:n.*2081_*2083dup |