Linked Data
ClinVar Variation Id:
220402
ClinVar RCV Id:
RCV000206107
dbSNP Id:
rs779506456
ExAC:
5:13829727 C / CA
gnomAD v2:
5-13829727-C-CA
gnomAD v3:
5-13829618-C-CA
gnomAD v4:
5-13829618-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13829618_13829619insA , CM000667.2:g.13829618_13829619insA | GRCh38 |
| NC_000005.9:g.13829727_13829728insA , CM000667.1:g.13829727_13829728insA | GRCh37 |
| NC_000005.8:g.13882727_13882728insA | NCBI36 |
| NG_013081.1:g.119862_119863insT | |
| NG_013081.2:g.119862_119863insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683090.1:n.1266_1267insT | ||
| ENST00000265104.5:c.6335_6336insT MANE Select | ENSP00000265104.4:p.Gln2112HisfsTer10 | |
| ENST00000681290.1:c.6290_6291insT | ENSP00000505288.1:p.Gln2097HisfsTer10 | |
| ENST00000265104.4:c.6335_6336insT | ENSP00000265104.4:p.Gln2112HisfsTer10 | |
| NM_001369.2:c.6335_6336insT | NP_001360.1:p.Gln2112HisfsTer10 | |
| XM_005248262.2:c.6290_6291insT | XP_005248319.1:p.Gln2097HisfsTer10 | |
| XM_011513990.1:c.6335_6336insT | XP_011512292.1:p.Gln2112HisfsTer10 | |
| XR_925598.1:n.6542_6543insT | ||
| XM_005248262.3:c.6443_6444insT | XP_005248319.2:p.Gln2148HisfsTer10 | |
| XM_017009177.1:c.6443_6444insT | XP_016864666.1:p.Gln2148HisfsTer10 | |
| XM_017009178.1:c.5348_5349insT | XP_016864667.1:p.Gln1783HisfsTer10 | |
| XM_017009179.2:c.5348_5349insT | XP_016864668.1:p.Gln1783HisfsTer10 | |
| XM_017009180.1:c.6443_6444insT | XP_016864669.1:p.Gln2148HisfsTer10 | |
| XM_017009181.1:c.6443_6444insT | XP_016864670.1:p.Gln2148HisfsTer10 | |
| XM_017009182.1:c.6443_6444insT | XP_016864671.1:p.Gln2148HisfsTer10 | |
| XM_017009183.1:c.6443_6444insT | XP_016864672.1:p.Gln2148HisfsTer10 | |
| XM_017009184.1:c.6443_6444insT | XP_016864673.1:p.Gln2148HisfsTer10 | |
| XM_017009185.1:c.1532_1533insT | XP_016864674.1:p.Gln511HisfsTer10 | |
| XM_017009186.1:c.1085_1086insT | XP_016864675.1:p.Gln362HisfsTer10 | |
| XM_017009187.1:c.6443_6444insT | XP_016864676.1:p.Gln2148HisfsTer10 | |
| XM_017009188.1:c.422_423insT | XP_016864677.1:p.Gln141HisfsTer10 | |
| XM_024454388.1:c.5348_5349insT | XP_024310156.1:p.Gln1783HisfsTer10 | |
| XM_024454389.1:c.4937_4938insT | XP_024310157.1:p.Gln1646HisfsTer10 | |
| XR_001742034.1:n.6460_6461insT | ||
| XR_001742035.1:n.6460_6461insT | ||
| NM_001369.3:c.6335_6336insT MANE Select | NP_001360.1:p.Gln2112HisfsTer10 |