Linked Data
dbSNP Id:
rs80356646
ExAC:
1:193111228 T / TGAGA
gnomAD v2:
1-193111228-T-TGAGA
gnomAD v3:
1-193142098-T-TGAGA
gnomAD v4:
1-193142098-T-TGAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142114_193142117dup , CM000663.2:g.193142114_193142117dup | GRCh38 |
| NC_000001.10:g.193111244_193111247dup , CM000663.1:g.193111244_193111247dup | GRCh37 |
| NC_000001.9:g.191377867_191377870dup | NCBI36 |
| NG_012691.1:g.25157_25160dup , LRG_507:g.25157_25160dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.729+48_729+51dup MANE Select | ENSP00000356405.4:n.729+48_729+51dup | |
| ENST00000635846.1:c.729+48_729+51dup | ENSP00000490035.1:n.729+48_729+51dup | |
| ENST00000643006.1:c.729+48_729+51dup | ENSP00000496633.1:n.729+48_729+51dup | |
| ENST00000643784.1:c.*205+48_*205+51dup | ENSP00000494944.1:n.*205+48_*205+51dup | |
| ENST00000647662.1:n.630+48_630+51dup | ||
| ENST00000648071.1:c.*705+48_*705+51dup | ENSP00000497513.1:n.*705+48_*705+51dup | |
| ENST00000649606.1:n.742+48_742+51dup | ||
| ENST00000649895.1:n.947+48_947+51dup | ||
| ENST00000650197.1:c.729+48_729+51dup | ENSP00000496929.1:n.729+48_729+51dup | |
| ENST00000367435.3:c.729+48_729+51dup | ENSP00000356405.3:n.729+48_729+51dup | |
| NM_024529.4:c.729+48_729+51dup , LRG_507t1:c.729+48_729+51dup | NP_078805.3:n.729+48_729+51dup | |
| XM_006711537.2:c.729+48_729+51dup | XP_006711600.1:n.729+48_729+51dup | |
| XM_006711537.4:c.729+48_729+51dup | XP_006711600.1:n.729+48_729+51dup | |
| NM_024529.5:c.729+48_729+51dup MANE Select | NP_078805.3:n.729+48_729+51dup |