Linked Data
ClinVar Variation Id:
422693
ClinVar RCV Id:
RCV000486693
dbSNP Id:
rs1064795941
gnomAD v3:
11-44309808-GC-G
gnomAD v4:
11-44309808-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44309812del , CM000673.2:g.44309812del | GRCh38 |
| NC_000011.9:g.44331362del , CM000673.1:g.44331362del | GRCh37 |
| NC_000011.8:g.44287938del | NCBI36 |
| NG_015809.1:g.5358del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652299.1:c.254del MANE Select | ENSP00000498217.1:p.Gly85AlafsTer? | |
| ENST00000329255.3:c.254del | ENSP00000332744.3:p.Gly85AlafsTer? | |
| NM_021926.3:c.254del | NP_068745.2:p.Gly85AlafsTer? | |
| XM_011520264.1:c.254del | XP_011518566.1:p.Gly85AlafsTer? | |
| XM_011520265.1:c.-147-122del | XP_011518567.1:n.-147-122del | |
| NM_021926.4:c.254del MANE Select | NP_068745.2:p.Gly85AlafsTer? |