Linked Data
ClinVar Variation Id:
342312
ClinVar RCV Id:
RCV000259765
dbSNP Id:
rs66908707
gnomAD v3:
3-101226225-TTA-T
gnomAD v4:
3-101226225-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101226279_101226280del , CM000665.2:g.101226279_101226280del | GRCh38 |
| NC_000003.11:g.100945123_100945124del , CM000665.1:g.100945123_100945124del | GRCh37 |
| NC_000003.10:g.102427813_102427814del | NCBI36 |
| NG_028284.1:g.99349_99350del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*742_*743del MANE Select | ENSP00000193391.6:n.*742_*743del | |
| ENST00000193391.7:c.*742_*743del | ENSP00000193391.6:n.*742_*743del | |
| NM_016247.3:c.*742_*743del | NP_057331.2:n.*742_*743del | |
| XM_011512872.1:c.*742_*743del | XP_011511174.1:n.*742_*743del | |
| NM_016247.4:c.*742_*743del MANE Select | NP_057331.2:n.*742_*743del |