Linked Data
dbSNP Id:
rs768809741
gnomAD v2:
1-183559707-CAG-C
gnomAD v3:
1-183590572-CAG-C
gnomAD v4:
1-183590572-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590583_183590584del , CM000663.2:g.183590583_183590584del | GRCh38 |
| NC_000001.10:g.183559718_183559719del , CM000663.1:g.183559718_183559719del | GRCh37 |
| NC_000001.9:g.181826341_181826342del | NCBI36 |
| NG_007267.1:g.5008_5009del , LRG_88:g.5008_5009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-30-215_-30-214del (NCF2) | ENSP00000513258.1:n.-30-215_-30-214del | |
| ENST00000697352.1:n.18_19del (NCF2) | ||
| ENST00000697353.1:n.83+49_83+50del (NCF2) | ||
| ENST00000367536.5:c.-30-215_-30-214del (NCF2) | ENSP00000356506.1:n.-30-215_-30-214del | |
| ENST00000413720.5:c.-245_-244del (NCF2) | ENSP00000399294.1:n.-245_-244del | |
| ENST00000418089.5:c.-245_-244del (NCF2) | ENSP00000407217.1:n.-245_-244del | |
| ENST00000495321.1:n.234-7186_234-7185del (SMG7) | ||
| NM_000433.3:c.-245_-244del , LRG_88t1:c.-245_-244del (NCF2) | NP_000424.2:n.-245_-244del | |
| NM_001127651.2:c.-30-215_-30-214del (NCF2) | NP_001121123.1:n.-30-215_-30-214del | |
| NM_001190789.1:c.-245_-244del (NCF2) | NP_001177718.1:n.-245_-244del | |
| NM_001190794.1:c.-245_-244del (NCF2) | NP_001177723.1:n.-245_-244del | |
| XM_011509580.1:c.-31+49_-31+50del (NCF2) | XP_011507882.1:n.-31+49_-31+50del | |
| XM_011509581.1:c.-83_-82del (NCF2) | XP_011507883.1:n.-83_-82del | |
| NM_001127651.3:c.-30-215_-30-214del (NCF2) | NP_001121123.1:n.-30-215_-30-214del |