Linked Data
dbSNP Id:
rs575409588
gnomAD v2:
6-121767777-CAAACA-C
gnomAD v3:
6-121446631-CAAACA-C
gnomAD v4:
6-121446631-CAAACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446642_121446646del , CM000668.2:g.121446642_121446646del | GRCh38 |
| NC_000006.11:g.121767788_121767792del , CM000668.1:g.121767788_121767792del | GRCh37 |
| NC_000006.10:g.121809487_121809491del | NCBI36 |
| NG_008308.1:g.16044_16048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.-16-190_-16-186del MANE Select | ENSP00000282561.3:n.-16-190_-16-186del | |
| ENST00000647564.1:c.-16-190_-16-186del | ENSP00000497565.1:n.-16-190_-16-186del | |
| ENST00000649003.1:c.-16-190_-16-186del | ENSP00000497283.1:n.-16-190_-16-186del | |
| ENST00000650427.1:c.-16-190_-16-186del | ENSP00000497367.1:n.-16-190_-16-186del | |
| ENST00000282561.3:c.-16-190_-16-186del | ENSP00000282561.3:n.-16-190_-16-186del | |
| NM_000165.4:c.-16-190_-16-186del | NP_000156.1:n.-16-190_-16-186del | |
| NM_000165.5:c.-16-190_-16-186del MANE Select | NP_000156.1:n.-16-190_-16-186del |