Linked Data
dbSNP Id:
rs1371542097
gnomAD v2:
1-67519648-GGGCTTCTCCTTTAA-G
gnomAD v3:
1-67053965-GGGCTTCTCCTTTAA-G
gnomAD v4:
1-67053965-GGGCTTCTCCTTTAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053966_67053979del , CM000663.2:g.67053966_67053979del | GRCh38 |
| NC_000001.10:g.67519649_67519662del , CM000663.1:g.67519649_67519662del | GRCh37 |
| NC_000001.9:g.67292237_67292250del | NCBI36 |
| NG_012933.1:g.5419_5432del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.35_48del MANE Select | ENSP00000235345.5:p.Val12AlafsTer10 | |
| ENST00000235345.5:c.35_48del | ENSP00000235345.5:p.Val12AlafsTer10 | |
| NM_015139.2:c.35_48del | NP_055954.1:p.Val12AlafsTer10 | |
| XM_006710478.1:c.35_48del | XP_006710541.1:p.Val12AlafsTer10 | |
| XM_011541070.1:c.35_48del | XP_011539372.1:p.Val12AlafsTer10 | |
| XM_006710478.2:c.35_48del | XP_006710541.1:p.Val12AlafsTer10 | |
| XM_011541070.2:c.35_48del | XP_011539372.1:p.Val12AlafsTer10 | |
| XR_001737057.2:n.445_458del | ||
| XR_001737058.2:n.438_451del | ||
| NM_015139.3:c.35_48del MANE Select | NP_055954.1:p.Val12AlafsTer10 |