Linked Data
ClinVar Variation Id:
356500
ClinVar RCV Id:
RCV000323466
dbSNP Id:
rs780263173
gnomAD v2:
6-35791163-TATAC-T
gnomAD v3:
6-35823386-TATAC-T
gnomAD v4:
6-35823386-TATAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35823388_35823391del , CM000668.2:g.35823388_35823391del | GRCh38 |
| NC_000006.11:g.35791165_35791168del , CM000668.1:g.35791165_35791168del | GRCh37 |
| NC_000006.10:g.35899143_35899146del | NCBI36 |
| NG_012184.1:g.23095_23098del | |
| NG_012184.2:g.23095_23098del | |
| NG_012184.3:g.31183_31186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.*423_*426del MANE Select | ENSP00000353346.1:n.*423_*426del | |
| ENST00000496656.2:n.578+3568_578+3571del | ||
| ENST00000651132.1:c.*423_*426del | ENSP00000498322.1:n.*423_*426del | |
| ENST00000651676.1:c.*16+3925_*16+3928del | ENSP00000498699.1:n.*16+3925_*16+3928del | |
| ENST00000651994.1:c.*503_*506del | ENSP00000498310.1:n.*503_*506del | |
| ENST00000652718.1:c.508+3925_508+3928del | ENSP00000498866.1:n.508+3925_508+3928del | |
| ENST00000360215.2:c.*423_*426del | ENSP00000353346.1:n.*423_*426del | |
| ENST00000496656.1:n.812+3568_812+3571del | ||
| NM_182548.3:c.*423_*426del | NP_872354.1:n.*423_*426del | |
| NM_182548.4:c.*423_*426del MANE Select | NP_872354.1:n.*423_*426del |