Linked Data
ClinVar Variation Id:
3043359
ClinVar RCV Id:
RCV003934151
dbSNP Id:
rs11572078
ExAC:
10:96827119 T / TAA
gnomAD v2:
10-96827119-T-TAA
gnomAD v3:
10-95067362-T-TAA
gnomAD v4:
10-95067362-T-TAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067368_95067369dup , CM000672.2:g.95067368_95067369dup | GRCh38 |
| NC_000010.10:g.96827125_96827126dup , CM000672.1:g.96827125_96827126dup | GRCh37 |
| NC_000010.9:g.96817115_96817116dup | NCBI36 |
| NG_007972.1:g.7134_7135dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.332-7_332-6dup MANE Select | ENSP00000360317.3:n.332-7_332-6dup | |
| ENST00000371270.5:c.332-7_332-6dup | ENSP00000360317.3:n.332-7_332-6dup | |
| ENST00000479946.2:n.629_630dup | ||
| ENST00000490994.6:c.*118-7_*118-6dup | ENSP00000433314.1:n.*118-7_*118-6dup | |
| ENST00000525991.5:c.207-7_207-6dup | ENSP00000433842.1:n.207-7_207-6dup | |
| ENST00000526814.5:n.580_581dup | ||
| ENST00000527420.5:c.332-7_332-6dup | ENSP00000433191.1:n.332-7_332-6dup | |
| ENST00000527953.5:n.580_581dup | ||
| ENST00000533320.5:n.559_560dup | ||
| ENST00000535898.5:c.26-7_26-6dup | ENSP00000445062.1:n.26-7_26-6dup | |
| ENST00000539050.5:c.122-7_122-6dup | ENSP00000442343.2:n.122-7_122-6dup | |
| ENST00000623108.3:c.122-7_122-6dup | ENSP00000485110.1:n.122-7_122-6dup | |
| ENST00000628935.1:c.67_68dup | ENSP00000487145.1:p.Leu23PhefsTer3 | |
| NM_000770.3:c.332-7_332-6dup MANE Select | NP_000761.3:n.332-7_332-6dup | |
| NM_001198853.1:c.122-7_122-6dup | NP_001185782.1:n.122-7_122-6dup | |
| NM_001198854.1:c.26-7_26-6dup | NP_001185783.1:n.26-7_26-6dup | |
| NM_001198855.1:c.122-7_122-6dup | NP_001185784.1:n.122-7_122-6dup | |
| XR_945610.1:n.428-7_428-6dup |