Linked Data
ClinVar Variation Id:
1226559
ClinVar RCV Id:
RCV001615824
dbSNP Id:
rs59834456
gnomAD v2:
9-894335-CATAT-C
gnomAD v3:
9-894335-CATAT-C
gnomAD v4:
9-894335-CATAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.894336_894339del , CM000671.2:g.894336_894339del | GRCh38 |
| NC_000009.11:g.894336_894339del , CM000671.1:g.894336_894339del | GRCh37 |
| NC_000009.10:g.884336_884339del | NCBI36 |
| NG_009221.1:g.57647_57650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382276.8:c.822+141_822+144del MANE Select | ENSP00000371711.3:n.822+141_822+144del | |
| ENST00000382276.7:c.822+141_822+144del | ENSP00000371711.3:n.822+141_822+144del | |
| ENST00000564322.1:n.1112_1115del | ||
| ENST00000569227.1:c.348+141_348+144del | ENSP00000454701.1:n.348+141_348+144del | |
| NM_021951.2:c.822+141_822+144del | NP_068770.2:n.822+141_822+144del | |
| XM_006716732.1:c.822+141_822+144del | XP_006716795.1:n.822+141_822+144del | |
| XM_011517770.1:c.870+141_870+144del | XP_011516072.1:n.870+141_870+144del | |
| XM_011517771.1:c.870+141_870+144del | XP_011516073.1:n.870+141_870+144del | |
| XM_011517772.1:c.870+141_870+144del | XP_011516074.1:n.870+141_870+144del | |
| XM_011517773.1:c.348+141_348+144del | XP_011516075.1:n.348+141_348+144del | |
| NM_001363767.1:c.348+141_348+144del | NP_001350696.1:n.348+141_348+144del | |
| XM_011517773.3:c.348+141_348+144del | XP_011516075.1:n.348+141_348+144del | |
| XM_017014374.1:c.587-22427_587-22424del | XP_016869863.1:n.587-22427_587-22424del | |
| XM_017014375.1:c.539-22427_539-22424del | XP_016869864.1:n.539-22427_539-22424del | |
| XM_024447434.1:c.276+141_276+144del | XP_024303202.1:n.276+141_276+144del | |
| NM_021951.3:c.822+141_822+144del MANE Select | NP_068770.2:n.822+141_822+144del |