Linked Data
gnomAD v4:
17-39665685-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665688_39665690del , CM000679.2:g.39665688_39665690del | GRCh38 |
| NC_000017.10:g.37821941_37821943del , CM000679.1:g.37821941_37821943del | GRCh37 |
| NC_000017.9:g.35075467_35075469del | NCBI36 |
| NG_008892.1:g.5343_5345del , LRG_210:g.5343_5345del | |
| NG_042278.1:g.2708_2710del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.111-28_111-26del MANE Select | ENSP00000312624.2:n.111-28_111-26del | |
| ENST00000309889.2:c.111-28_111-26del | ENSP00000312624.2:n.111-28_111-26del | |
| ENST00000578283.1:c.111-28_111-26del | ENSP00000462787.1:n.111-28_111-26del | |
| NM_003673.3:c.111-28_111-26del , LRG_210t1:c.111-28_111-26del | NP_003664.1:n.111-28_111-26del | |
| NM_003673.4:c.111-28_111-26del MANE Select | NP_003664.1:n.111-28_111-26del |