Linked Data
ClinVar Variation Id:
475587
dbSNP Id:
rs67357185
ExAC:
22:31328525 CAT / C
gnomAD v2:
22-31328525-CAT-C
gnomAD v3:
22-30932538-CAT-C
gnomAD v4:
22-30932538-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.30932539_30932540del , CM000684.2:g.30932539_30932540del | GRCh38 |
| NC_000022.10:g.31328526_31328527del , CM000684.1:g.31328526_31328527del | GRCh37 |
| NC_000022.9:g.29658526_29658527del | NCBI36 |
| NG_046752.1:g.40958_40959del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397641.8:c.2747+5_2747+6del MANE Select | ENSP00000380763.2:n.2747+5_2747+6del | |
| ENST00000674576.1:n.4193+5_4193+6del | ||
| ENST00000674585.1:n.432+5_432+6del | ||
| ENST00000675027.1:n.137+5_137+6del | ||
| ENST00000675317.1:n.1168+5_1168+6del | ||
| ENST00000675402.1:n.379+5_379+6del | ||
| ENST00000675570.1:c.603+5_603+6del | ||
| ENST00000675601.1:n.2589+5_2589+6del | ||
| ENST00000675779.1:c.95+5_95+6del | ENSP00000502216.1:n.95+5_95+6del | |
| ENST00000675798.1:n.499+5_499+6del | ||
| ENST00000676215.1:n.3590+5_3590+6del | ||
| ENST00000676263.1:n.992+5_992+6del | ||
| ENST00000215862.8:c.2561+5_2561+6del | ENSP00000215862.4:n.2561+5_2561+6del | |
| ENST00000397641.7:c.2747+5_2747+6del | ENSP00000380763.2:n.2747+5_2747+6del | |
| ENST00000445980.5:c.231+5_231+6del | ||
| NM_001303256.1:c.2747+5_2747+6del | NP_001290185.1:n.2747+5_2747+6del | |
| NM_001303257.1:c.2747+5_2747+6del | NP_001290186.1:n.2747+5_2747+6del | |
| NM_014941.2:c.2561+5_2561+6del | NP_055756.1:n.2561+5_2561+6del | |
| XM_011530003.1:c.2771+5_2771+6del | XP_011528305.1:n.2771+5_2771+6del | |
| XM_011530004.1:c.2762+5_2762+6del | XP_011528306.1:n.2762+5_2762+6del | |
| XM_011530005.1:c.2771+5_2771+6del | XP_011528307.1:n.2771+5_2771+6del | |
| XM_011530006.1:c.2612+5_2612+6del | XP_011528308.1:n.2612+5_2612+6del | |
| NM_001303256.2:c.2747+5_2747+6del | NP_001290185.1:n.2747+5_2747+6del | |
| NM_001303257.2:c.2747+5_2747+6del | NP_001290186.1:n.2747+5_2747+6del | |
| NM_014941.3:c.2561+5_2561+6del | NP_055756.1:n.2561+5_2561+6del | |
| XM_011530004.2:c.2762+5_2762+6del | XP_011528306.1:n.2762+5_2762+6del | |
| XM_017028667.2:c.2762+5_2762+6del | XP_016884156.1:n.2762+5_2762+6del | |
| NM_001303256.3:c.2747+5_2747+6del MANE Select | NP_001290185.1:n.2747+5_2747+6del |