Linked Data
ClinVar Variation Id:
420468
ClinVar RCV Id:
RCV000483726
dbSNP Id:
rs1064794494
gnomAD v3:
7-150955469-CCT-C
gnomAD v4:
7-150955469-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150955470_150955471del , CM000669.2:g.150955470_150955471del | GRCh38 |
| NC_000007.13:g.150652558_150652559del , CM000669.1:g.150652558_150652559del | GRCh37 |
| NC_000007.12:g.150283491_150283492del | NCBI36 |
| NG_008916.1:g.27456_27457del , LRG_288:g.27456_27457del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.351_352del | ||
| ENST00000684241.1:n.1961+1820_1961+1821del | ||
| ENST00000262186.10:c.1128+1820_1128+1821del MANE Select | ENSP00000262186.5:n.1128+1820_1128+1821de... | |
| ENST00000330883.9:c.33_34del | ENSP00000328531.4:p.Ala13SerfsTer? | |
| ENST00000262186.9:c.1128+1820_1128+1821del | ENSP00000262186.5:n.1128+1820_1128+1821de... | |
| ENST00000330883.8:c.33_34del | ENSP00000328531.4:p.Ala13SerfsTer? | |
| ENST00000430723.4:c.780+1820_780+1821del | ENSP00000387657.4:n.780+1820_780+1821del | |
| ENST00000461280.1:n.340_341del | ||
| ENST00000473610.5:n.358_359del | ||
| ENST00000532957.5:n.1351+1820_1351+1821del | ||
| NM_000238.3:c.1128+1820_1128+1821del , LRG_288t1:c.1128+1820_1128+1821del | NP_000229.1:n.1128+1820_1128+1821del | |
| NM_001204798.1:c.33_34del | NP_001191727.1:p.Ala13SerfsTer? | |
| NM_172056.2:c.1128+1820_1128+1821del , LRG_288t2:c.1128+1820_1128+1821del | NP_742053.1:n.1128+1820_1128+1821del | |
| NM_172057.2:c.33_34del , LRG_288t3:c.33_34del | NP_742054.1:p.Ala13SerfsTer? | |
| XM_011516185.1:c.828+1820_828+1821del | XP_011514487.1:n.828+1820_828+1821del | |
| XM_011516186.1:c.1128+1820_1128+1821del | XP_011514488.1:n.1128+1820_1128+1821del | |
| XM_011516185.2:c.828+1820_828+1821del | XP_011514487.1:n.828+1820_828+1821del | |
| XM_011516186.3:c.1128+1820_1128+1821del | XP_011514488.1:n.1128+1820_1128+1821del | |
| XM_017012195.1:c.978+1820_978+1821del | XP_016867684.1:n.978+1820_978+1821del | |
| XM_017012196.1:c.951+1820_951+1821del | XP_016867685.1:n.951+1820_951+1821del | |
| NM_000238.4:c.1128+1820_1128+1821del MANE Select | NP_000229.1:n.1128+1820_1128+1821del | |
| NM_001204798.2:c.33_34del | NP_001191727.1:p.Ala13SerfsTer? | |
| NM_172057.3:c.33_34del | NP_742054.1:p.Ala13SerfsTer? |