Linked Data
ClinVar Variation Id:
304683
ClinVar RCV Id:
RCV000313806
dbSNP Id:
rs149719812
gnomAD v2:
11-44285594-CCTT-C
gnomAD v3:
11-44264044-CCTT-C
gnomAD v4:
11-44264044-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44264050_44264052del , CM000673.2:g.44264050_44264052del | GRCh38 |
| NC_000011.9:g.44285600_44285602del , CM000673.1:g.44285600_44285602del | GRCh37 |
| NC_000011.8:g.44242176_44242178del | NCBI36 |
| NG_015809.1:g.51120_51122del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.*807_*809del MANE Select | ENSP00000498217.1:n.*807_*809del | |
| ENST00000329255.3:c.*807_*809del | ENSP00000332744.3:n.*807_*809del | |
| NM_021926.3:c.*807_*809del | NP_068745.2:n.*807_*809del | |
| XM_011520265.1:c.*807_*809del | XP_011518567.1:n.*807_*809del | |
| XM_011520266.1:c.*807_*809del | XP_011518568.1:n.*807_*809del | |
| NM_021926.4:c.*807_*809del MANE Select | NP_068745.2:n.*807_*809del |