Linked Data
dbSNP Id:
rs796097780
gnomAD v2:
6-35791635-ATT-A
gnomAD v3:
6-35823858-ATT-A
gnomAD v4:
6-35823858-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823868_35823869del , CM000668.2:g.35823868_35823869del | GRCh38 |
| NC_000006.11:g.35791645_35791646del , CM000668.1:g.35791645_35791646del | GRCh37 |
| NC_000006.10:g.35899623_35899624del | NCBI36 |
| NG_012184.1:g.23575_23576del | |
| NG_012184.2:g.23575_23576del | |
| NG_012184.3:g.31663_31664del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*903_*904del MANE Select | ENSP00000353346.1:n.*903_*904del | |
| ENST00000496656.2:n.578+4048_578+4049del | ||
| ENST00000651132.1:c.*903_*904del | ENSP00000498322.1:n.*903_*904del | |
| ENST00000651676.1:c.*16+4405_*16+4406del | ENSP00000498699.1:n.*16+4405_*16+4406del | |
| ENST00000652718.1:c.508+4405_508+4406del | ENSP00000498866.1:n.508+4405_508+4406del | |
| ENST00000360215.2:c.*903_*904del | ENSP00000353346.1:n.*903_*904del | |
| ENST00000496656.1:n.812+4048_812+4049del | ||
| NM_182548.3:c.*903_*904del | NP_872354.1:n.*903_*904del | |
| NM_182548.4:c.*903_*904del MANE Select | NP_872354.1:n.*903_*904del |