Linked Data
ClinVar Variation Id:
218139
ClinVar RCV Id:
RCV000202372
dbSNP Id:
rs3830806
ExAC:
6:53134104 C / CACAG
gnomAD v2:
6-53134104-C-CACAG
gnomAD v3:
6-53269306-C-CACAG
gnomAD v4:
6-53269306-C-CACAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53269307_53269310dup , CM000668.2:g.53269307_53269310dup | GRCh38 |
| NC_000006.11:g.53134105_53134108dup , CM000668.1:g.53134105_53134108dup | GRCh37 |
| NC_000006.10:g.53242064_53242067dup | NCBI36 |
| NG_034263.1:g.84870_84873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304434.11:c.757-40_757-37dup MANE Select | ENSP00000306640.6:n.757-40_757-37dup | |
| ENST00000304434.10:c.757-40_757-37dup | ENSP00000306640.6:n.757-40_757-37dup | |
| ENST00000370918.8:c.838-40_838-37dup | ENSP00000359956.5:n.838-40_838-37dup | |
| ENST00000542638.5:c.632-40_632-37dup | ENSP00000440728.2:n.632-40_632-37dup | |
| NM_001242828.1:c.838-40_838-37dup | NP_001229757.1:n.838-40_838-37dup | |
| NM_001242830.1:c.632-40_632-37dup | NP_001229759.1:n.632-40_632-37dup | |
| NM_001301856.1:c.757-40_757-37dup | NP_001288785.1:n.757-40_757-37dup | |
| NM_021814.4:c.757-40_757-37dup | NP_068586.1:n.757-40_757-37dup | |
| NM_021814.5:c.757-40_757-37dup MANE Select | NP_068586.1:n.757-40_757-37dup | |
| NM_001301856.2:c.757-40_757-37dup | NP_001288785.1:n.757-40_757-37dup | |
| NM_001242828.2:c.838-40_838-37dup | NP_001229757.1:n.838-40_838-37dup | |
| NM_001242830.2:c.632-40_632-37dup | NP_001229759.1:n.632-40_632-37dup |