Linked Data
ClinVar Variation Id:
355618
ClinVar RCV Id:
RCV000373545
dbSNP Id:
rs11356106
gnomAD v2:
6-144509862-C-CTTT
gnomAD v3:
6-144188725-C-CTTT
gnomAD v4:
6-144188725-C-CTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.144188742_144188744dup , CM000668.2:g.144188742_144188744dup | GRCh38 |
| NC_000006.11:g.144509879_144509881dup , CM000668.1:g.144509879_144509881dup | GRCh37 |
| NC_000006.10:g.144551572_144551574dup | NCBI36 |
| NG_007613.1:g.43226_43228dup , LRG_113:g.43226_43228dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698356.1:c.*1251_*1253dup | ENSP00000513679.1:n.*1251_*1253dup | |
| ENST00000367568.5:c.*1251_*1253dup MANE Select | ENSP00000356540.4:n.*1251_*1253dup | |
| NM_003764.3:c.*1251_*1253dup , LRG_113t1:c.*1251_*1253dup | NP_003755.2:n.*1251_*1253dup | |
| XM_011536213.2:c.*1251_*1253dup | XP_011534515.1:n.*1251_*1253dup | |
| XM_011536214.2:c.*1251_*1253dup | XP_011534516.1:n.*1251_*1253dup | |
| XM_011536217.2:c.*1251_*1253dup | XP_011534519.1:n.*1251_*1253dup | |
| XM_011536218.2:c.*1251_*1253dup | XP_011534520.1:n.*1251_*1253dup | |
| XM_017011400.1:c.*1251_*1253dup | XP_016866889.1:n.*1251_*1253dup | |
| NM_003764.4:c.*1251_*1253dup MANE Select | NP_003755.2:n.*1251_*1253dup |