Linked Data
ClinVar Variation Id:
349348
dbSNP Id:
rs71537671
gnomAD v2:
4-6304560-CTTTT-C
gnomAD v3:
4-6302833-CTTTT-C
gnomAD v4:
4-6302833-CTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302834_6302837del , CM000666.2:g.6302834_6302837del | GRCh38 |
| NC_000004.11:g.6304561_6304564del , CM000666.1:g.6304561_6304564del | GRCh37 |
| NC_000004.10:g.6355462_6355465del | NCBI36 |
| NG_011700.1:g.37985_37988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.*366_*369del | ENSP00000507852.1:n.*366_*369del | |
| ENST00000683395.1:c.3016_3019del | ||
| ENST00000684087.1:c.*366_*369del | ENSP00000506978.1:n.*366_*369del | |
| ENST00000506362.2:c.*366_*369del | ENSP00000424103.2:n.*366_*369del | |
| ENST00000673991.1:c.*366_*369del | ENSP00000501033.1:n.*366_*369del | |
| ENST00000226760.5:c.*366_*369del MANE Select | ENSP00000226760.1:n.*366_*369del | |
| ENST00000503569.5:c.*366_*369del | ENSP00000423337.1:n.*366_*369del | |
| ENST00000507765.1:n.3224_3227del | ||
| NM_001145853.1:c.*366_*369del | NP_001139325.1:n.*366_*369del | |
| NM_006005.3:c.*366_*369del MANE Select | NP_005996.2:n.*366_*369del | |
| XM_017008586.1:c.*366_*369del | XP_016864075.1:n.*366_*369del |