Linked Data
dbSNP Id:
rs1158675380
gnomAD v2:
14-88401063-G-GCCCT
gnomAD v4:
14-87934719-G-GCCCT
MyVariant Identifiers:
chr14:g.88401063_88401064insCCCT (hg19)
chr14:g.87934719_87934720insCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87934720_87934723dup , CM000676.2:g.87934720_87934723dup | GRCh38 |
| NC_000014.8:g.88401064_88401067dup , CM000676.1:g.88401064_88401067dup | GRCh37 |
| NC_000014.7:g.87470817_87470820dup | NCBI36 |
| NG_011853.2:g.63841_63844dup | |
| NG_011853.3:g.63841_63844dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.*9_*12dup MANE Select | ENSP00000261304.2:n.*9_*12dup | |
| ENST00000261304.6:c.*9_*12dup | ENSP00000261304.2:n.*9_*12dup | |
| ENST00000393568.8:c.*9_*12dup | ENSP00000377198.4:n.*9_*12dup | |
| ENST00000393569.6:c.*9_*12dup | ENSP00000377199.2:n.*9_*12dup | |
| ENST00000544807.6:c.1744-724_1744-721dup | ENSP00000437513.2:n.1744-724_1744-721dup | |
| ENST00000555000.5:c.1279-724_1279-721dup | ENSP00000450472.1:n.1279-724_1279-721dup | |
| NM_000153.3:c.*9_*12dup | NP_000144.2:n.*9_*12dup | |
| NM_001201401.1:c.*9_*12dup | NP_001188330.1:n.*9_*12dup | |
| NM_001201402.1:c.*9_*12dup | NP_001188331.1:n.*9_*12dup | |
| XM_011536618.1:c.*9_*12dup | XP_011534920.1:n.*9_*12dup | |
| XM_011536618.2:c.*9_*12dup | XP_011534920.1:n.*9_*12dup | |
| NM_000153.4:c.*9_*12dup MANE Select | NP_000144.2:n.*9_*12dup | |
| NM_001201401.2:c.*9_*12dup | NP_001188330.1:n.*9_*12dup | |
| NM_001201402.2:c.*9_*12dup | NP_001188331.1:n.*9_*12dup |