Linked Data
ClinVar Variation Id:
1315793
ClinVar RCV Id:
RCV001755455
dbSNP Id:
rs2147651246
gnomAD v4:
X-77508555-TTGTTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77508564_77508569del , CM000685.2:g.77508564_77508569del | GRCh38 |
| NC_000023.10:g.76764042_76764047del , CM000685.1:g.76764042_76764047del | GRCh37 |
| NC_000023.9:g.76650698_76650703del | NCBI36 |
| NG_008838.2:g.282661_282666del | |
| NG_008838.3:g.282709_282714del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.7269_7274del MANE Select | ENSP00000362441.4:p.Gln2424_Gln2425del | |
| ENST00000675732.1:c.2367_2372del | ENSP00000502598.1:p.Gln790_Gln791del | |
| ENST00000373344.9:c.7269_7274del | ENSP00000362441.4:p.Gln2424_Gln2425del | |
| ENST00000395603.7:c.7155_7160del | ENSP00000378967.3:p.Gln2386_Gln2387del | |
| ENST00000480283.5:c.*6897_*6902del | ENSP00000480196.1:n.*6897_*6902del | |
| ENST00000623706.3:n.5589_5594del | ||
| ENST00000624766.1:n.500_505del | ||
| NM_000489.4:c.7269_7274del | NP_000480.3:p.Gln2424_Gln2425del | |
| NM_138270.3:c.7155_7160del | NP_612114.2:p.Gln2386_Gln2387del | |
| XM_005262153.3:c.7266_7271del | XP_005262210.2:p.Gln2423_Gln2424del | |
| XM_005262154.3:c.7182_7187del | XP_005262211.2:p.Gln2395_Gln2396del | |
| XM_005262155.3:c.7152_7157del | XP_005262212.2:p.Gln2385_Gln2386del | |
| XM_005262156.3:c.7104_7109del | XP_005262213.2:p.Gln2369_Gln2370del | |
| XM_005262157.3:c.7065_7070del | XP_005262214.2:p.Gln2356_Gln2357del | |
| XM_006724666.2:c.7152_7157del | XP_006724729.1:p.Gln2385_Gln2386del | |
| XM_006724667.2:c.6990_6995del | XP_006724730.1:p.Gln2331_Gln2332del | |
| XR_938400.1:n.8861_8866del | ||
| NM_000489.5:c.7269_7274del | NP_000480.3:p.Gln2424_Gln2425del | |
| XM_005262153.5:c.7266_7271del | XP_005262210.2:p.Gln2423_Gln2424del | |
| XM_005262154.5:c.7182_7187del | XP_005262211.2:p.Gln2395_Gln2396del | |
| XM_005262155.4:c.7152_7157del | XP_005262212.2:p.Gln2385_Gln2386del | |
| XM_005262156.4:c.7104_7109del | XP_005262213.2:p.Gln2369_Gln2370del | |
| XM_005262157.5:c.7065_7070del | XP_005262214.2:p.Gln2356_Gln2357del | |
| XM_006724666.4:c.7152_7157del | XP_006724729.1:p.Gln2385_Gln2386del | |
| XM_006724667.3:c.6990_6995del | XP_006724730.1:p.Gln2331_Gln2332del | |
| XM_017029601.2:c.7179_7184del | XP_016885090.1:p.Gln2394_Gln2395del | |
| XM_017029602.1:c.7149_7154del | XP_016885091.1:p.Gln2384_Gln2385del | |
| XM_017029603.1:c.7101_7106del | XP_016885092.1:p.Gln2368_Gln2369del | |
| XM_017029604.2:c.7068_7073del | XP_016885093.1:p.Gln2357_Gln2358del | |
| XM_017029605.1:c.7065_7070del | XP_016885094.1:p.Gln2356_Gln2357del | |
| XM_017029606.2:c.7038_7043del | XP_016885095.1:p.Gln2347_Gln2348del | |
| XM_017029607.2:c.7035_7040del | XP_016885096.1:p.Gln2346_Gln2347del | |
| XM_017029608.2:c.6987_6992del | XP_016885097.1:p.Gln2330_Gln2331del | |
| XM_017029609.1:c.6951_6956del | XP_016885098.1:p.Gln2318_Gln2319del | |
| XM_017029610.1:c.6948_6953del | XP_016885099.1:p.Gln2317_Gln2318del | |
| XM_017029611.1:c.6903_6908del | XP_016885100.1:p.Gln2302_Gln2303del | |
| XR_001755700.2:n.7568_7573del | ||
| NM_138270.4:c.7155_7160del | NP_612114.2:p.Gln2386_Gln2387del | |
| NM_000489.6:c.7269_7274del MANE Select | NP_000480.3:p.Gln2424_Gln2425del | |
| NM_138270.5:c.7155_7160del | NP_612114.2:p.Gln2386_Gln2387del |