Linked Data
dbSNP Id:
rs1685954332
gnomAD v3:
2-189058676-TTGAAGTAAGGA-T
gnomAD v4:
2-189058676-TTGAAGTAAGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189058678_189058688del , CM000664.2:g.189058678_189058688del | GRCh38 |
| NC_000002.11:g.189923404_189923414del , CM000664.1:g.189923404_189923414del | GRCh37 |
| NC_000002.10:g.189631649_189631659del | NCBI36 |
| NG_011799.1:g.126193_126203del | |
| NG_011799.2:g.126193_126203del | |
| NG_011799.3:g.171615_171625del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2131-160_2131-150del MANE Select | ENSP00000364000.3:n.2131-160_2131-150del | |
| ENST00000374866.7:c.2131-160_2131-150del | ENSP00000364000.3:n.2131-160_2131-150del | |
| ENST00000470524.2:n.237-160_237-150del | ||
| ENST00000618828.1:c.970-160_970-150del | ENSP00000482184.1:n.970-160_970-150del | |
| NM_000393.3:c.2131-160_2131-150del | NP_000384.2:n.2131-160_2131-150del | |
| XM_011510573.1:c.1993-160_1993-150del | XP_011508875.1:n.1993-160_1993-150del | |
| NM_000393.4:c.2131-160_2131-150del | NP_000384.2:n.2131-160_2131-150del | |
| XM_011510573.3:c.1993-160_1993-150del | XP_011508875.1:n.1993-160_1993-150del | |
| NM_000393.5:c.2131-160_2131-150del MANE Select | NP_000384.2:n.2131-160_2131-150del |