Linked Data
ClinVar Variation Id:
454613
dbSNP Id:
rs767677564
gnomAD v2:
19-55672006-ACCTGGAGTC-A
gnomAD v3:
19-55160638-ACCTGGAGTC-A
gnomAD v4:
19-55160638-ACCTGGAGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55160644_55160652del , CM000681.2:g.55160644_55160652del | GRCh38 |
| NC_000019.9:g.55672012_55672020del , CM000681.1:g.55672012_55672020del | GRCh37 |
| NC_000019.8:g.60363824_60363832del | NCBI36 |
| NG_007866.2:g.2086_2094del , LRG_432:g.2086_2094del | |
| NG_032759.1:g.11076_11084del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524407.7:c.1041_1048+1del (DNAAF3) | ||
| ENST00000391720.8:c.1182_1189+1del (DNAAF3) | ||
| ENST00000455045.5:c.879_886+1del (DNAAF3) | ||
| ENST00000524407.6:c.1041_1048+1del (DNAAF3) | ||
| ENST00000527223.6:c.1245_1252+1del (DNAAF3) | ||
| ENST00000528412.5:c.*829_*836+1del (DNAAF3) | ||
| ENST00000533527.6:n.803_810+1del (DNAAF3) | ||
| ENST00000587789.2:n.13_20+1del (DNAAF3) | ||
| ENST00000587871.1:c.25_32+1del | ||
| ENST00000588076.1:c.43_50+1del (DNAAF3) | ||
| NM_001256714.1:c.1245_1252+1del (DNAAF3) | ||
| NM_001256715.1:c.1041_1048+1del (DNAAF3) | ||
| NM_001256716.1:c.879_886+1del (DNAAF3) | ||
| NM_178837.4:c.1182_1189+1del (DNAAF3) | ||
| XR_936074.1:n.146-451_146-443del (DNAAF3-AS1) | ||
| XR_001754014.1:n.88-402_88-394del (DNAAF3-AS1) | ||
| XR_001754015.1:n.108-451_108-443del (DNAAF3-AS1) | ||
| XR_936074.2:n.150-451_150-443del (DNAAF3-AS1) | ||
| NM_001256715.2:c.1041_1048+1del (DNAAF3) | ||
| NM_001256716.2:c.879_886+1del (DNAAF3) |