Linked Data
ClinVar Variation Id:
309865
ClinVar RCV Id:
RCV000318808
dbSNP Id:
rs540359096
gnomAD v2:
12-56843854-AAAT-A
gnomAD v3:
12-56450070-AAAT-A
gnomAD v4:
12-56450070-AAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56450077_56450079del , CM000674.2:g.56450077_56450079del | GRCh38 |
| NC_000012.11:g.56843861_56843863del , CM000674.1:g.56843861_56843863del | GRCh37 |
| NC_000012.10:g.55130128_55130130del | NCBI36 |
| NG_021397.1:g.9579_9581del | |
| NG_021397.2:g.24094_24096del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*1623_*1625del | ENSP00000497190.1:n.*1623_*1625del | |
| ENST00000652304.1:c.*1207_*1209del MANE Select | ENSP00000498622.1:n.*1207_*1209del | |
| ENST00000257979.4:c.*1207_*1209del | ENSP00000257979.4:n.*1207_*1209del | |
| NM_012064.3:c.*1207_*1209del | NP_036196.1:n.*1207_*1209del | |
| XM_011538354.1:c.*1207_*1209del | XP_011536656.1:n.*1207_*1209del | |
| NM_012064.4:c.*1207_*1209del MANE Select | NP_036196.1:n.*1207_*1209del | |
| XM_017019306.1:c.*1207_*1209del | XP_016874795.1:n.*1207_*1209del |