Linked Data
ClinVar Variation Id:
810745
ClinVar RCV Id:
RCV000999583
dbSNP Id:
rs1584852174
gnomAD v4:
7-150951021-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951024del , CM000669.2:g.150951024del | GRCh38 |
| NC_000007.13:g.150648112del , CM000669.1:g.150648112del | GRCh37 |
| NC_000007.12:g.150279045del | NCBI36 |
| NG_008916.1:g.31905del , LRG_288:g.31905del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1342del | ||
| ENST00000683359.1:n.168del | ||
| ENST00000684241.1:n.2877del | ||
| ENST00000262186.10:c.2044del MANE Select | ENSP00000262186.5:p.Glu682SerfsTer? | |
| ENST00000330883.9:c.1024del | ENSP00000328531.4:p.Glu342SerfsTer? | |
| ENST00000262186.9:c.2044del | ENSP00000262186.5:p.Glu682SerfsTer? | |
| ENST00000330883.8:c.1024del | ENSP00000328531.4:p.Glu342SerfsTer? | |
| ENST00000430723.4:c.1696del | ENSP00000387657.4:p.Glu566SerfsTer? | |
| ENST00000461280.1:n.1331del | ||
| ENST00000473610.5:n.1676del | ||
| ENST00000532957.5:n.2267del | ||
| NM_000238.3:c.2044del , LRG_288t1:c.2044del | NP_000229.1:p.Glu682SerfsTer? | |
| NM_001204798.1:c.1024del | NP_001191727.1:p.Glu342SerfsTer? | |
| NM_172056.2:c.2044del , LRG_288t2:c.2044del | NP_742053.1:p.Glu682SerfsTer? | |
| NM_172057.2:c.1024del , LRG_288t3:c.1024del | NP_742054.1:p.Glu342SerfsTer? | |
| XM_011516185.1:c.1744del | XP_011514487.1:p.Glu582SerfsTer? | |
| XM_011516186.1:c.2044del | XP_011514488.1:p.Glu682SerfsTer? | |
| XM_011516185.2:c.1744del | XP_011514487.1:p.Glu582SerfsTer? | |
| XM_011516186.3:c.2044del | XP_011514488.1:p.Glu682SerfsTer? | |
| XM_017012195.1:c.1894del | XP_016867684.1:p.Glu632SerfsTer? | |
| XM_017012196.1:c.1867del | XP_016867685.1:p.Glu623SerfsTer? | |
| NM_000238.4:c.2044del MANE Select | NP_000229.1:p.Glu682SerfsTer? | |
| NM_001204798.2:c.1024del | NP_001191727.1:p.Glu342SerfsTer? | |
| NM_172057.3:c.1024del | NP_742054.1:p.Glu342SerfsTer? |