Linked Data
dbSNP Id:
rs1398652507
gnomAD v2:
6-16396843-CTT-C
gnomAD v3:
6-16396612-CTT-C
gnomAD v4:
6-16396612-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16396613_16396614del , CM000668.2:g.16396613_16396614del | GRCh38 |
| NC_000006.11:g.16396844_16396845del , CM000668.1:g.16396844_16396845del | GRCh37 |
| NC_000006.10:g.16504823_16504824del | NCBI36 |
| NG_011571.1:g.369877_369878del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.-160-68144_-160-68143del MANE Select | ENSP00000416360.1:n.-160-68144_-160-68143del | |
| ENST00000244769.8:c.-160-68144_-160-68143del | ENSP00000244769.3:n.-160-68144_-160-68143del | |
| ENST00000436367.5:c.-160-68144_-160-68143del | ENSP00000416360.1:n.-160-68144_-160-68143del | |
| NM_000332.3:c.-160-68144_-160-68143del | NP_000323.2:n.-160-68144_-160-68143del | |
| NM_001128164.1:c.-160-68144_-160-68143del | NP_001121636.1:n.-160-68144_-160-68143del | |
| NM_001357857.1:c.-189-68144_-189-68143del | NP_001344786.1:n.-189-68144_-189-68143del | |
| NM_001357857.2:c.-189-68144_-189-68143del | NP_001344786.1:n.-189-68144_-189-68143del | |
| NM_001128164.2:c.-160-68144_-160-68143del MANE Select | NP_001121636.1:n.-160-68144_-160-68143del | |
| NM_000332.4:c.-160-68144_-160-68143del | NP_000323.2:n.-160-68144_-160-68143del |