Linked Data
ClinVar Variation Id:
262228
dbSNP Id:
rs11467076
ExAC:
20:746423 GTATCTGCCC / G
gnomAD v2:
20-746423-GTATCTGCCC-G
gnomAD v3:
20-765779-GTATCTGCCC-G
gnomAD v4:
20-765779-GTATCTGCCC-G
MyVariant Identifiers:
chr20:g.746424_746432del (hg19)
chr20:g.765781_765789del (hg38)
chr20:g.765780_765788del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.765781_765789del , CM000682.2:g.765781_765789del | GRCh38 |
| NC_000020.10:g.746425_746433del , CM000682.1:g.746425_746433del | GRCh37 |
| NC_000020.9:g.694425_694433del | NCBI36 |
| NG_027687.1:g.7797_7805del | |
| NG_027687.2:g.15198_15206del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381944.5:c.-14_-6del | ENSP00000371370.3:n.-14_-6del | |
| ENST00000473664.2:c.-14_-6del | ENSP00000502741.1:n.-14_-6del | |
| ENST00000488495.3:c.-14_-6del | ENSP00000494009.1:n.-14_-6del | |
| ENST00000645534.1:c.-14_-6del MANE Select | ENSP00000494193.1:n.-14_-6del | |
| ENST00000674666.1:c.-14_-6del | ENSP00000502783.1:n.-14_-6del | |
| ENST00000675066.1:c.-14_-6del | ENSP00000501902.1:n.-14_-6del | |
| ENST00000676154.1:c.-14_-6del | ENSP00000501807.1:n.-14_-6del | |
| ENST00000217254.11:c.-14_-6del | ENSP00000217254.7:n.-14_-6del | |
| ENST00000381944.4:c.-14_-6del | ENSP00000371370.3:n.-14_-6del | |
| ENST00000473664.1:n.38_46del | ||
| ENST00000632431.1:c.-14_-6del | ENSP00000488723.1:n.-14_-6del | |
| NM_033409.3:c.-14_-6del | NP_212134.3:n.-14_-6del | |
| XM_005260655.3:c.-14_-6del | XP_005260712.1:n.-14_-6del | |
| XM_011529148.1:c.-14_-6del | XP_011527450.1:n.-14_-6del | |
| XM_005260655.4:c.-14_-6del | XP_005260712.1:n.-14_-6del | |
| XM_024451821.1:c.-14_-6del | XP_024307589.1:n.-14_-6del | |
| NM_033409.4:c.-14_-6del MANE Select | NP_212134.3:n.-14_-6del | |
| NM_001370085.1:c.-14_-6del | NP_001357014.1:n.-14_-6del | |
| NM_001370086.1:c.-14_-6del | NP_001357015.1:n.-14_-6del |