Linked Data
ClinVar Variation Id:
222998
ClinVar RCV Id:
RCV000208597
dbSNP Id:
rs869025585
gnomAD v2:
22-37260985-A-AAAGGAGGATC
gnomAD v3:
22-36864943-A-AAAGGAGGATC
gnomAD v4:
22-36864943-A-AAAGGAGGATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36864944_36864953dup , CM000684.2:g.36864944_36864953dup | GRCh38 |
| NC_000022.10:g.37260986_37260995dup , CM000684.1:g.37260986_37260995dup | GRCh37 |
| NC_000022.9:g.35590932_35590941dup | NCBI36 |
| NG_023400.1:g.8957_8966dup , LRG_159:g.8957_8966dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248899.11:c.143_152dup (NCF4) MANE Select | ENSP00000248899.6:p.Lys52ArgfsTer? | |
| ENST00000397147.7:c.143_152dup (NCF4) | ENSP00000380334.4:p.Lys52ArgfsTer? | |
| ENST00000650698.1:c.-167_-158dup (NCF4) | ENSP00000498381.1:n.-167_-158dup | |
| ENST00000650827.1:c.-167_-158dup (NCF4) | ENSP00000498212.1:n.-167_-158dup | |
| ENST00000651053.1:n.448_457dup (NCF4) | ||
| ENST00000248899.10:c.143_152dup (NCF4) | ENSP00000248899.6:p.Lys52ArgfsTer? | |
| ENST00000397147.6:c.143_152dup (NCF4) | ENSP00000380334.4:p.Lys52ArgfsTer? | |
| ENST00000447071.5:c.-167_-158dup (NCF4) | ENSP00000414958.1:n.-167_-158dup | |
| NM_000631.4:c.143_152dup (NCF4) | NP_000622.2:p.Lys52ArgfsTer? | |
| NM_013416.3:c.143_152dup , LRG_159t1:c.143_152dup (NCF4) | NP_038202.2:p.Lys52ArgfsTer? | |
| XM_011530198.1:c.317_326dup (NCF4) | XP_011528500.1:p.Lys110ArgfsTer? | |
| XM_011530199.1:c.287_296dup (NCF4) | XP_011528501.1:p.Lys100ArgfsTer? | |
| NR_147197.1:n.351+5140_351+5149dup (NCF4-AS1) | ||
| XM_017028808.1:c.-167_-158dup (NCF4) | XP_016884297.1:n.-167_-158dup | |
| NM_000631.5:c.143_152dup (NCF4) MANE Select | NP_000622.2:p.Lys52ArgfsTer? | |
| NM_013416.4:c.143_152dup (NCF4) | NP_038202.2:p.Lys52ArgfsTer? |