Linked Data
gnomAD v4:
1-183590652-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590656del , CM000663.2:g.183590656del | GRCh38 |
| NC_000001.10:g.183559791del , CM000663.1:g.183559791del | GRCh37 |
| NC_000001.9:g.181826414del | NCBI36 |
| NG_007267.1:g.4929del , LRG_88:g.4929del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-31+187del (NCF2) | ENSP00000513258.1:n.-31+187del | |
| ENST00000697353.1:n.53del (NCF2) | ||
| ENST00000367536.5:c.-31+187del (NCF2) | ENSP00000356506.1:n.-31+187del | |
| ENST00000495321.1:n.234-7113del (SMG7) | ||
| NM_001127651.2:c.-31+187del (NCF2) | NP_001121123.1:n.-31+187del | |
| XM_011509580.1:c.-61del (NCF2) | XP_011507882.1:n.-61del | |
| NM_001127651.3:c.-31+187del (NCF2) | NP_001121123.1:n.-31+187del |