Linked Data
gnomAD v4:
1-68431199-AATCAAGCAATCAGTCAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68431202_68431219del , CM000663.2:g.68431202_68431219del | GRCh38 |
| NC_000001.10:g.68896885_68896902del , CM000663.1:g.68896885_68896902del | GRCh37 |
| NC_000001.9:g.68669473_68669490del | NCBI36 |
| NG_008472.1:g.23743_23760del | |
| NG_008472.2:g.23743_23760del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1339-41_1339-24del MANE Select | ENSP00000262340.5:n.1339-41_1339-24del | |
| ENST00000262340.5:c.1339-41_1339-24del | ENSP00000262340.5:n.1339-41_1339-24del | |
| NM_000329.2:c.1339-41_1339-24del | NP_000320.1:n.1339-41_1339-24del | |
| XM_017002027.1:c.1063-41_1063-24del | XP_016857516.1:n.1063-41_1063-24del | |
| NM_000329.3:c.1339-41_1339-24del MANE Select | NP_000320.1:n.1339-41_1339-24del |