Linked Data
ClinVar Variation Id:
1420193
ClinVar RCV Id:
RCV001914086
dbSNP Id:
rs2116933842
gnomAD v4:
7-150947827-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947832del , CM000669.2:g.150947832del | GRCh38 |
| NC_000007.13:g.150644920del , CM000669.1:g.150644920del | GRCh37 |
| NC_000007.12:g.150275853del | NCBI36 |
| NG_008916.1:g.35099del , LRG_288:g.35099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3576del | ||
| ENST00000262186.10:c.2743del MANE Select | ENSP00000262186.5:p.Ala915GlnfsTer? | |
| ENST00000330883.9:c.1723del | ENSP00000328531.4:p.Ala575GlnfsTer? | |
| ENST00000262186.9:c.2743del | ENSP00000262186.5:p.Ala915GlnfsTer? | |
| ENST00000330883.8:c.1723del | ENSP00000328531.4:p.Ala575GlnfsTer? | |
| NM_000238.3:c.2743del , LRG_288t1:c.2743del | NP_000229.1:p.Ala915GlnfsTer? | |
| NM_172057.2:c.1723del , LRG_288t3:c.1723del | NP_742054.1:p.Ala575GlnfsTer? | |
| XM_011516185.1:c.2443del | XP_011514487.1:p.Ala815GlnfsTer? | |
| XM_011516186.1:c.2693-137del | XP_011514488.1:n.2693-137del | |
| XM_011516185.2:c.2443del | XP_011514487.1:p.Ala815GlnfsTer? | |
| XM_011516186.3:c.2693-137del | XP_011514488.1:n.2693-137del | |
| XM_017012195.1:c.2593del | XP_016867684.1:p.Ala865GlnfsTer? | |
| XM_017012196.1:c.2566del | XP_016867685.1:p.Ala856GlnfsTer? | |
| NM_000238.4:c.2743del MANE Select | NP_000229.1:p.Ala915GlnfsTer? | |
| NM_172057.3:c.1723del | NP_742054.1:p.Ala575GlnfsTer? |