Linked Data
dbSNP Id:
rs1758452726
gnomAD v3:
6-16396060-CTCAGGCAGG-C
gnomAD v4:
6-16396060-CTCAGGCAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16396063_16396071del , CM000668.2:g.16396063_16396071del | GRCh38 |
| NC_000006.11:g.16396294_16396302del , CM000668.1:g.16396294_16396302del | GRCh37 |
| NC_000006.10:g.16504273_16504281del | NCBI36 |
| NG_011571.1:g.370422_370430del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.-160-67599_-160-67591del MANE Select | ENSP00000416360.1:n.-160-67599_-160-67591del | |
| ENST00000244769.8:c.-160-67599_-160-67591del | ENSP00000244769.3:n.-160-67599_-160-67591del | |
| ENST00000436367.5:c.-160-67599_-160-67591del | ENSP00000416360.1:n.-160-67599_-160-67591del | |
| NM_000332.3:c.-160-67599_-160-67591del | NP_000323.2:n.-160-67599_-160-67591del | |
| NM_001128164.1:c.-160-67599_-160-67591del | NP_001121636.1:n.-160-67599_-160-67591del | |
| NM_001357857.1:c.-189-67599_-189-67591del | NP_001344786.1:n.-189-67599_-189-67591del | |
| NM_001357857.2:c.-189-67599_-189-67591del | NP_001344786.1:n.-189-67599_-189-67591del | |
| NM_001128164.2:c.-160-67599_-160-67591del MANE Select | NP_001121636.1:n.-160-67599_-160-67591del | |
| NM_000332.4:c.-160-67599_-160-67591del | NP_000323.2:n.-160-67599_-160-67591del |