Linked Data
ClinVar Variation Id:
258985
dbSNP Id:
rs368226832
ExAC:
6:50791584 CACAA / C
gnomAD v2:
6-50791584-CACAA-C
gnomAD v3:
6-50823871-CACAA-C
gnomAD v4:
6-50823871-CACAA-C
MyVariant Identifiers:
chr6:g.50791606_50791609del (hg19)
chr6:g.50791593_50791596del (hg19)
chr6:g.50791589_50791592del (hg19)
chr6:g.50791587_50791590del (hg19)
chr6:g.50791585_50791588del (hg19)
chr6:g.50823893_50823896del (hg38)
chr6:g.50823880_50823883del (hg38)
chr6:g.50823876_50823879del (hg38)
chr6:g.50823875_50823878del (hg38)
chr6:g.50823872_50823875del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50823893_50823896del , CM000668.2:g.50823893_50823896del | GRCh38 |
| NC_000006.11:g.50791606_50791609del , CM000668.1:g.50791606_50791609del | GRCh37 |
| NC_000006.10:g.50899565_50899568del | NCBI36 |
| NG_008438.1:g.10168_10171del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393655.4:c.540+28_540+31del MANE Select | ENSP00000377265.2:n.540+28_540+31del | |
| ENST00000344788.7:c.534+28_534+31del | ENSP00000342252.3:n.534+28_534+31del | |
| ENST00000393655.3:c.540+28_540+31del | ENSP00000377265.2:n.540+28_540+31del | |
| NM_003221.3:c.540+28_540+31del | NP_003212.2:n.540+28_540+31del | |
| XM_006715176.2:c.540+28_540+31del | XP_006715239.1:n.540+28_540+31del | |
| XM_006715177.2:c.486+28_486+31del | XP_006715240.1:n.486+28_486+31del | |
| XM_011514834.1:c.567+28_567+31del | XP_011513136.1:n.567+28_567+31del | |
| XM_011514835.1:c.567+28_567+31del | XP_011513137.1:n.567+28_567+31del | |
| XM_011514836.1:c.567+28_567+31del | XP_011513138.1:n.567+28_567+31del | |
| XM_011514837.1:c.567+28_567+31del | XP_011513139.1:n.567+28_567+31del | |
| XM_011514837.2:c.567+28_567+31del | XP_011513139.1:n.567+28_567+31del | |
| XM_017011233.1:c.705+28_705+31del | XP_016866722.1:n.705+28_705+31del | |
| XM_017011234.1:c.669+28_669+31del | XP_016866723.1:n.669+28_669+31del | |
| XM_017011235.2:c.82-4726_82-4723del | XP_016866724.1:n.82-4726_82-4723del | |
| NM_003221.4:c.540+28_540+31del MANE Select | NP_003212.2:n.540+28_540+31del |