Linked Data
dbSNP Id:
rs745721123
ExAC:
3:50230626 TCCC / T
gnomAD v2:
3-50230626-TCCC-T
gnomAD v4:
3-50193193-TCCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193194_50193196del , CM000665.2:g.50193194_50193196del | GRCh38 |
| NC_000003.11:g.50230627_50230629del , CM000665.1:g.50230627_50230629del | GRCh37 |
| NC_000003.10:g.50205631_50205633del | NCBI36 |
| NG_009831.1:g.6585_6587del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.149+19_149+21del MANE Select | ENSP00000232461.3:n.149+19_149+21del | |
| ENST00000232461.7:c.149+19_149+21del | ENSP00000232461.3:n.149+19_149+21del | |
| ENST00000433068.5:c.149+19_149+21del | ENSP00000387555.1:n.149+19_149+21del | |
| ENST00000440836.1:c.5+19_5+21del | ENSP00000403537.1:n.5+19_5+21del | |
| NM_000172.3:c.149+19_149+21del | NP_000163.2:n.149+19_149+21del | |
| NM_144499.2:c.149+19_149+21del | NP_653082.1:n.149+19_149+21del | |
| XM_011533595.1:c.5+19_5+21del | XP_011531897.1:n.5+19_5+21del | |
| XM_011533596.1:c.5+19_5+21del | XP_011531898.1:n.5+19_5+21del | |
| XR_940416.1:n.429+19_429+21del | ||
| NM_000172.4:c.149+19_149+21del | NP_000163.2:n.149+19_149+21del | |
| NM_144499.3:c.149+19_149+21del MANE Select | NP_653082.1:n.149+19_149+21del |