Linked Data
dbSNP Id:
rs1164516602
gnomAD v2:
16-88876054-C-CTGA
gnomAD v3:
16-88809646-C-CTGA
gnomAD v4:
16-88809646-C-CTGA
MyVariant Identifiers:
chr16:g.88876054_88876055insTGA (hg19)
chr16:g.88809646_88809647insTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809648_88809650dup , CM000678.2:g.88809648_88809650dup | GRCh38 |
| NC_000016.9:g.88876056_88876058dup , CM000678.1:g.88876056_88876058dup | GRCh37 |
| NC_000016.8:g.87403557_87403559dup | NCBI36 |
| NG_008013.1:g.7286_7288dup | |
| NG_028266.1:g.10871_10873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.*49_*51dup MANE Select | ENSP00000367615.3:n.*49_*51dup | |
| ENST00000378364.7:c.*49_*51dup | ENSP00000367615.3:n.*49_*51dup | |
| ENST00000426324.6:c.*53_*55dup | ENSP00000397007.2:n.*53_*55dup | |
| ENST00000563655.5:c.*49_*51dup | ENSP00000456012.1:n.*49_*51dup | |
| ENST00000567057.5:n.257_259dup | ||
| ENST00000567391.5:c.*266_*268dup | ENSP00000457964.1:n.*266_*268dup | |
| ENST00000567713.5:c.322-114_322-112dup | ENSP00000455749.1:n.322-114_322-112dup | |
| ENST00000568319.5:c.*132_*134dup | ENSP00000456905.1:n.*132_*134dup | |
| ENST00000569616.1:c.657_659dup | ||
| NM_000485.2:c.*49_*51dup | NP_000476.1:n.*49_*51dup | |
| NM_001030018.1:c.*53_*55dup | NP_001025189.1:n.*53_*55dup | |
| NM_000485.3:c.*49_*51dup MANE Select | NP_000476.1:n.*49_*51dup | |
| NM_001030018.2:c.*53_*55dup | NP_001025189.1:n.*53_*55dup |