Linked Data
gnomAD v4:
17-47283343-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283345_47283346del , CM000679.2:g.47283345_47283346del | GRCh38 |
| NC_000017.10:g.45360711_45360712del , CM000679.1:g.45360711_45360712del | GRCh37 |
| NC_000017.9:g.42715710_42715711del | NCBI36 |
| NG_008332.2:g.34504_34505del , LRG_481:g.34504_34505del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.166-9_166-8del | ENSP00000513002.1:n.166-9_166-8del | |
| ENST00000559488.7:c.166-9_166-8del MANE Select | ENSP00000452786.2:n.166-9_166-8del | |
| ENST00000559488.5:c.166-9_166-8del | ENSP00000452786.1:n.166-9_166-8del | |
| ENST00000560629.1:c.131-9_131-8del | ||
| ENST00000571680.1:c.166-9_166-8del | ENSP00000461626.1:n.166-9_166-8del | |
| NM_000212.2:c.166-9_166-8del , LRG_481t1:c.166-9_166-8del | NP_000203.2:n.166-9_166-8del | |
| NM_000212.3:c.166-9_166-8del MANE Select | NP_000203.2:n.166-9_166-8del |