Linked Data
gnomAD v4:
3-8745989-GAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745990_8745991del , CM000665.2:g.8745990_8745991del | GRCh38 |
| NC_000003.11:g.8787676_8787677del , CM000665.1:g.8787676_8787677del | GRCh37 |
| NC_000003.10:g.8762676_8762677del | NCBI36 |
| NG_008797.2:g.17181_17182del , LRG_329:g.17181_17182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.*123_*124del MANE Select | ENSP00000341940.2:n.*123_*124del | |
| ENST00000343849.2:c.*123_*124del | ENSP00000341940.2:n.*123_*124del | |
| ENST00000397368.2:c.*27_*28del | ENSP00000380525.2:n.*27_*28del | |
| ENST00000472766.1:n.155+12000_155+12001del | ||
| NM_001234.4:c.*27_*28del | NP_001225.1:n.*27_*28del | |
| NM_033337.2:c.*123_*124del , LRG_329t1:c.*123_*124del | NP_203123.1:n.*123_*124del | |
| NM_001234.5:c.*27_*28del | NP_001225.1:n.*27_*28del | |
| NM_033337.3:c.*123_*124del MANE Select | NP_203123.1:n.*123_*124del |