Linked Data
dbSNP Id:
rs1282571591
gnomAD v2:
22-37260994-TCCAAGTA-T
gnomAD v4:
22-36864952-TCCAAGTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36864955_36864961del , CM000684.2:g.36864955_36864961del | GRCh38 |
| NC_000022.10:g.37260997_37261003del , CM000684.1:g.37260997_37261003del | GRCh37 |
| NC_000022.9:g.35590943_35590949del | NCBI36 |
| NG_023400.1:g.8968_8974del , LRG_159:g.8968_8974del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248899.11:c.154_160del (NCF4) MANE Select | ENSP00000248899.6:p.Lys52SerfsTer? | |
| ENST00000397147.7:c.154_160del (NCF4) | ENSP00000380334.4:p.Lys52SerfsTer? | |
| ENST00000650698.1:c.-156_-150del (NCF4) | ENSP00000498381.1:n.-156_-150del | |
| ENST00000650827.1:c.-156_-150del (NCF4) | ENSP00000498212.1:n.-156_-150del | |
| ENST00000651053.1:n.459_465del (NCF4) | ||
| ENST00000248899.10:c.154_160del (NCF4) | ENSP00000248899.6:p.Lys52SerfsTer? | |
| ENST00000397147.6:c.154_160del (NCF4) | ENSP00000380334.4:p.Lys52SerfsTer? | |
| ENST00000447071.5:c.-156_-150del (NCF4) | ENSP00000414958.1:n.-156_-150del | |
| NM_000631.4:c.154_160del (NCF4) | NP_000622.2:p.Lys52SerfsTer? | |
| NM_013416.3:c.154_160del , LRG_159t1:c.154_160del (NCF4) | NP_038202.2:p.Lys52SerfsTer? | |
| XM_011530198.1:c.328_334del (NCF4) | XP_011528500.1:p.Lys110SerfsTer? | |
| XM_011530199.1:c.298_304del (NCF4) | XP_011528501.1:p.Lys100SerfsTer? | |
| NR_147197.1:n.351+5134_351+5140del (NCF4-AS1) | ||
| XM_017028808.1:c.-156_-150del (NCF4) | XP_016884297.1:n.-156_-150del | |
| NM_000631.5:c.154_160del (NCF4) MANE Select | NP_000622.2:p.Lys52SerfsTer? | |
| NM_013416.4:c.154_160del (NCF4) | NP_038202.2:p.Lys52SerfsTer? |