Linked Data
ClinVar Variation Id:
1126602
ClinVar RCV Id:
RCV001458737
dbSNP Id:
rs775960045
ExAC:
9:34647645 T / TTA
gnomAD v2:
9-34647645-T-TTA
gnomAD v4:
9-34647648-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647649_34647650dup , CM000671.2:g.34647649_34647650dup | GRCh38 |
| NC_000009.11:g.34647646_34647647dup , CM000671.1:g.34647646_34647647dup | GRCh37 |
| NC_000009.10:g.34637646_34637647dup | NCBI36 |
| NG_009029.1:g.6012_6013dup | |
| NG_028966.1:g.465_466dup | |
| NG_009029.2:g.6061_6062dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.328+82_328+83dup | ENSP00000509954.1:n.328+82_328+83dup | |
| ENST00000378842.8:c.329-8_329-7dup MANE Select | ENSP00000368119.4:n.329-8_329-7dup | |
| ENST00000378842.7:c.329-8_329-7dup | ENSP00000368119.3:n.329-8_329-7dup | |
| ENST00000450095.6:c.51-183_51-182dup | ENSP00000401956.2:n.51-183_51-182dup | |
| ENST00000465543.6:n.668-8_668-7dup | ||
| ENST00000472111.5:n.451_452dup | ||
| ENST00000473506.6:c.280-8_280-7dup | ENSP00000432839.2:n.280-8_280-7dup | |
| ENST00000473529.5:n.457_458dup | ||
| ENST00000485531.1:n.636_637dup | ||
| ENST00000487381.5:n.588-8_588-7dup | ||
| ENST00000489643.6:n.282+391_282+392dup | ||
| ENST00000554085.5:c.*73-8_*73-7dup | ENSP00000450419.1:n.*73-8_*73-7dup | |
| ENST00000554139.5:n.382-8_382-7dup | ||
| ENST00000554330.5:n.358_359dup | ||
| ENST00000554550.5:c.253-183_253-182dup | ENSP00000451435.1:n.253-183_253-182dup | |
| ENST00000554638.5:n.667_668dup | ||
| ENST00000554897.5:c.253-183_253-182dup | ENSP00000450942.1:n.253-183_253-182dup | |
| ENST00000554944.5:n.391_392dup | ||
| ENST00000555020.5:n.359-8_359-7dup | ||
| ENST00000555086.5:n.333-8_333-7dup | ||
| ENST00000555214.5:n.261+391_261+392dup | ||
| ENST00000556157.1:n.453-8_453-7dup | ||
| ENST00000556244.1:c.316-8_316-7dup | ||
| ENST00000556278.1:c.252+391_252+392dup | ENSP00000451792.1:n.252+391_252+392dup | |
| ENST00000556403.5:n.423_424dup | ||
| ENST00000556494.5:n.442_443dup | ||
| ENST00000557541.5:n.473-8_473-7dup | ||
| ENST00000557706.5:n.757_758dup | ||
| NM_000155.3:c.329-8_329-7dup | NP_000146.2:n.329-8_329-7dup | |
| NM_001258332.1:c.51-183_51-182dup | NP_001245261.1:n.51-183_51-182dup | |
| NM_000155.4:c.329-8_329-7dup MANE Select | NP_000146.2:n.329-8_329-7dup | |
| NM_001258332.2:c.51-183_51-182dup | NP_001245261.1:n.51-183_51-182dup |