Linked Data
ClinVar Variation Id:
319615
dbSNP Id:
rs113614842
ExAC:
16:51175655 C / CGCTGCT
gnomAD v2:
16-51175655-C-CGCTGCT
gnomAD v3:
16-51141744-C-CGCTGCT
gnomAD v4:
16-51141744-C-CGCTGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51141769_51141774dup , CM000678.2:g.51141769_51141774dup | GRCh38 |
| NC_000016.9:g.51175680_51175685dup , CM000678.1:g.51175680_51175685dup | GRCh37 |
| NC_000016.8:g.49733181_49733186dup | NCBI36 |
| NG_007990.1:g.14523_14528dup , LRG_674:g.14523_14528dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440970.6:c.472_477dup | ENSP00000407914.2:p.Ser159_Gly160insSerSe... | |
| ENST00000570206.2:c.181_186dup | ENSP00000456777.2:p.Ser62_Gly63insSerSer | |
| ENST00000685868.1:c.472_477dup | ENSP00000509873.1:p.Ser159_Gly160insSerSe... | |
| ENST00000690502.1:c.472_477dup | ENSP00000510560.1:p.Ser159_Gly160insSerSe... | |
| ENST00000251020.9:c.472_477dup MANE Select | ENSP00000251020.4:p.Ser159_Gly160insSerSe... | |
| ENST00000251020.8:c.472_477dup | ENSP00000251020.4:p.Ser159_Gly160insSerSe... | |
| ENST00000440970.5:c.181_186dup | ENSP00000407914.1:p.Ser62_Gly63insSerSer | |
| ENST00000566102.1:c.77-4198_77-4193dup | ENSP00000455582.1:n.77-4198_77-4193dup | |
| ENST00000570206.1:c.181_186dup | ENSP00000456777.1:p.Ser62_Gly63insSerSer | |
| NM_001127892.1:c.181_186dup | NP_001121364.1:p.Ser62_Gly63insSerSer | |
| NM_002968.2:c.472_477dup , LRG_674t1:c.472_477dup | NP_002959.2:p.Ser159_Gly160insSerSer | |
| XM_006721241.2:c.472_477dup | XP_006721304.1:p.Ser159_Gly160insSerSer | |
| XM_011523254.1:c.472_477dup | XP_011521556.1:p.Ser159_Gly160insSerSer | |
| XM_011523255.1:c.472_477dup | XP_011521557.1:p.Ser159_Gly160insSerSer | |
| NM_002968.3:c.472_477dup MANE Select | NP_002959.2:p.Ser159_Gly160insSerSer | |
| NM_001127892.2:c.181_186dup | NP_001121364.1:p.Ser62_Gly63insSerSer |