Linked Data
ClinVar Variation Id:
1273004
ClinVar RCV Id:
RCV001678827
dbSNP Id:
rs782299900
gnomAD v2:
X-48382099-C-CTT
gnomAD v3:
X-48523711-C-CTT
gnomAD v4:
X-48523711-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48523728_48523729dup , CM000685.2:g.48523728_48523729dup | GRCh38 |
| NC_000023.10:g.48382116_48382117dup , CM000685.1:g.48382116_48382117dup | GRCh37 |
| NC_000023.9:g.48267060_48267061dup | NCBI36 |
| NG_007452.1:g.6953_6954dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495186.6:c.-44_-43dup MANE Select | ENSP00000417052.1:n.-44_-43dup | |
| ENST00000651615.1:c.-44_-43dup | ENSP00000498524.1:n.-44_-43dup | |
| ENST00000276096.10:n.110-195_110-194dup | ||
| ENST00000414061.1:c.-44_-43dup | ENSP00000405832.1:n.-44_-43dup | |
| ENST00000446158.5:c.-44_-43dup | ENSP00000390031.1:n.-44_-43dup | |
| ENST00000495186.5:c.-44_-43dup | ENSP00000417052.1:n.-44_-43dup | |
| ENST00000498425.1:n.104-26_104-25dup | ||
| NM_006579.2:c.-44_-43dup | NP_006570.1:n.-44_-43dup | |
| NM_006579.3:c.-44_-43dup MANE Select | NP_006570.1:n.-44_-43dup |