Linked Data
ClinVar Variation Id:
968510
dbSNP Id:
rs746549330
gnomAD v2:
8-87588262-C-CTTTATCTTCATTTTCTTTTTG
gnomAD v3:
8-86576034-C-CTTTATCTTCATTTTCTTTTTG
gnomAD v4:
8-86576034-C-CTTTATCTTCATTTTCTTTTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86576075_86576095dup , CM000670.2:g.86576075_86576095dup | GRCh38 |
| NC_000008.10:g.87588303_87588323dup , CM000670.1:g.87588303_87588323dup | GRCh37 |
| NC_000008.9:g.87657419_87657439dup | NCBI36 |
| NG_016980.1:g.172621_172641dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2179_2199dup MANE Select | ENSP00000316605.5:p.Lys733_Gly734insGlnLysGluAsnGluAspLys | |
| ENST00000681546.1:n.1999_2019dup | ||
| ENST00000681746.1:c.*590_*610dup | ENSP00000505959.1:n.*590_*610dup | |
| ENST00000320005.5:c.2179_2199dup | ENSP00000316605.5:p.Lys733_Gly734insGlnLysGluAsnGluAspLys | |
| ENST00000517327.5:c.276+2634_276+2654dup | ENSP00000428329.1:n.276+2634_276+2654dup | |
| NM_019098.4:c.2179_2199dup | NP_061971.3:p.Lys733_Gly734insGlnLysGluAsnGluAspLys | |
| XM_011517138.1:c.1765_1785dup | XP_011515440.1:p.Lys595_Gly596insGlnLysGluAsnGluAspLys | |
| XM_011517138.2:c.1765_1785dup | XP_011515440.1:p.Lys595_Gly596insGlnLysGluAsnGluAspLys | |
| NM_019098.5:c.2179_2199dup MANE Select | NP_061971.3:p.Lys733_Gly734insGlnLysGluAsnGluAspLys |