Linked Data
ClinVar Variation Id:
241466
ClinVar RCV Id:
RCV000225829
dbSNP Id:
rs878855083
gnomAD v2:
16-74750461-CAG-C
gnomAD v4:
16-74716563-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716564_74716565del , CM000678.2:g.74716564_74716565del | GRCh38 |
| NC_000016.9:g.74750462_74750463del , CM000678.1:g.74750462_74750463del | GRCh37 |
| NC_000016.8:g.73307963_73307964del | NCBI36 |
| NG_017070.1:g.63267_63268del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219368.8:c.821_822del MANE Select | ENSP00000219368.3:p.Pro274ArgfsTer? | |
| ENST00000219368.7:c.821_822del | ENSP00000219368.3:p.Pro274ArgfsTer? | |
| ENST00000562145.1:n.542_543del | ||
| ENST00000567683.5:c.*100_*101del | ENSP00000455126.1:n.*100_*101del | |
| NM_024306.4:c.821_822del | NP_077282.3:p.Pro274ArgfsTer? | |
| XM_011523319.1:c.581_582del | XP_011521621.1:p.Pro194ArgfsTer? | |
| XM_011523317.3:c.*1685_*1686del | XP_011521619.1:n.*1685_*1686del | |
| XM_011523319.2:c.581_582del | XP_011521621.1:p.Pro194ArgfsTer? | |
| NM_024306.5:c.821_822del MANE Select | NP_077282.3:p.Pro274ArgfsTer? |