Linked Data
dbSNP Id:
rs1458612163
gnomAD v2:
1-209974568-TAGA-T
gnomAD v3:
1-209801223-TAGA-T
gnomAD v4:
1-209801223-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209801229_209801231del , CM000663.2:g.209801229_209801231del | GRCh38 |
| NC_000001.10:g.209974574_209974576del , CM000663.1:g.209974574_209974576del | GRCh37 |
| NC_000001.9:g.208041197_208041199del | NCBI36 |
| NG_007081.2:g.9909_9911del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.174+14_174+16del | ENSP00000512426.1:n.174+14_174+16del | |
| ENST00000696134.1:c.174+14_174+16del | ENSP00000512427.1:n.174+14_174+16del | |
| ENST00000367021.8:c.174+14_174+16del MANE Select | ENSP00000355988.3:n.174+14_174+16del | |
| ENST00000643798.1:c.174+14_174+16del | ENSP00000496669.1:n.174+14_174+16del | |
| ENST00000367021.7:c.174+14_174+16del | ENSP00000355988.3:n.174+14_174+16del | |
| ENST00000456314.1:c.174+14_174+16del | ENSP00000403855.1:n.174+14_174+16del | |
| ENST00000542854.5:c.-111-4674_-111-4672del | ENSP00000440532.1:n.-111-4674_-111-4672del | |
| NM_001206696.1:c.-111-4674_-111-4672del | NP_001193625.1:n.-111-4674_-111-4672del | |
| NM_006147.3:c.174+14_174+16del | NP_006138.1:n.174+14_174+16del | |
| NM_006147.4:c.174+14_174+16del MANE Select | NP_006138.1:n.174+14_174+16del | |
| NM_001206696.2:c.-111-4674_-111-4672del | NP_001193625.1:n.-111-4674_-111-4672del |