Linked Data
dbSNP Id:
rs1261993921
gnomAD v3:
6-35823384-TATATACACAC-T
gnomAD v4:
6-35823384-TATATACACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823386_35823395del , CM000668.2:g.35823386_35823395del | GRCh38 |
| NC_000006.11:g.35791163_35791172del , CM000668.1:g.35791163_35791172del | GRCh37 |
| NC_000006.10:g.35899141_35899150del | NCBI36 |
| NG_012184.1:g.23093_23102del | |
| NG_012184.2:g.23093_23102del | |
| NG_012184.3:g.31181_31190del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*421_*430del MANE Select | ENSP00000353346.1:n.*421_*430del | |
| ENST00000496656.2:n.578+3566_578+3575del | ||
| ENST00000651132.1:c.*421_*430del | ENSP00000498322.1:n.*421_*430del | |
| ENST00000651676.1:c.*16+3923_*16+3932del | ENSP00000498699.1:n.*16+3923_*16+3932del | |
| ENST00000651994.1:c.*501_*510del | ENSP00000498310.1:n.*501_*510del | |
| ENST00000652718.1:c.508+3923_508+3932del | ENSP00000498866.1:n.508+3923_508+3932del | |
| ENST00000360215.2:c.*421_*430del | ENSP00000353346.1:n.*421_*430del | |
| ENST00000496656.1:n.812+3566_812+3575del | ||
| NM_182548.3:c.*421_*430del | NP_872354.1:n.*421_*430del | |
| NM_182548.4:c.*421_*430del MANE Select | NP_872354.1:n.*421_*430del |