Linked Data
dbSNP Id:
rs2113339848
gnomAD v3:
6-10921419-TGGTATTTCTTTCTCTA-T
gnomAD v4:
6-10921419-TGGTATTTCTTTCTCTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10921423_10921438del , CM000668.2:g.10921423_10921438del | GRCh38 |
| NC_000006.11:g.10921656_10921671del , CM000668.1:g.10921656_10921671del | GRCh37 |
| NC_000006.10:g.11029642_11029657del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283141.11:c.1073-3073_1073-3058del MANE Select | ENSP00000283141.6:n.1073-3073_1073-3058del | |
| ENST00000283141.10:c.1073-3073_1073-3058del | ENSP00000283141.6:n.1073-3073_1073-3058del | |
| ENST00000341041.8:c.*151-1268_*151-1253del | ENSP00000340320.4:n.*151-1268_*151-1253del | |
| ENST00000480294.1:c.*1035-3073_*1035-3058del | ENSP00000417929.1:n.*1035-3073_*1035-3058del | |
| ENST00000487561.2:c.556-3073_556-3058del | ENSP00000417870.1:n.556-3073_556-3058del | |
| ENST00000543878.5:c.1070-3073_1070-3058del | ENSP00000440676.2:n.1070-3073_1070-3058del | |
| NM_001040274.2:c.1073-3073_1073-3058del | NP_001035364.2:n.1073-3073_1073-3058del | |
| NM_001040274.3:c.1073-3073_1073-3058del MANE Select | NP_001035364.2:n.1073-3073_1073-3058del |