Linked Data
ClinVar Variation Id:
407241
dbSNP Id:
rs752925056
ExAC:
5:13841160 A / AT
gnomAD v2:
5-13841160-A-AT
gnomAD v3:
5-13841051-A-AT
gnomAD v4:
5-13841051-A-AT
COSMIC:
COSM4614341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13841058dup , CM000667.2:g.13841058dup | GRCh38 |
| NC_000005.9:g.13841167dup , CM000667.1:g.13841167dup | GRCh37 |
| NC_000005.8:g.13894167dup | NCBI36 |
| NG_013081.1:g.108429dup | |
| NG_013081.2:g.108429dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.5563dup MANE Select | ENSP00000265104.4:p.Ile1855AsnfsTer6 | |
| ENST00000681290.1:c.5518dup | ENSP00000505288.1:p.Ile1840AsnfsTer6 | |
| ENST00000265104.4:c.5563dup | ENSP00000265104.4:p.Ile1855AsnfsTer6 | |
| NM_001369.2:c.5563dup | NP_001360.1:p.Ile1855AsnfsTer6 | |
| XM_005248262.2:c.5518dup | XP_005248319.1:p.Ile1840AsnfsTer6 | |
| XM_011513990.1:c.5563dup | XP_011512292.1:p.Ile1855AsnfsTer6 | |
| XR_925598.1:n.5770dup | ||
| XM_005248262.3:c.5671dup | XP_005248319.2:p.Ile1891AsnfsTer6 | |
| XM_017009177.1:c.5671dup | XP_016864666.1:p.Ile1891AsnfsTer6 | |
| XM_017009178.1:c.4576dup | XP_016864667.1:p.Ile1526AsnfsTer6 | |
| XM_017009179.2:c.4576dup | XP_016864668.1:p.Ile1526AsnfsTer6 | |
| XM_017009180.1:c.5671dup | XP_016864669.1:p.Ile1891AsnfsTer6 | |
| XM_017009181.1:c.5671dup | XP_016864670.1:p.Ile1891AsnfsTer6 | |
| XM_017009182.1:c.5671dup | XP_016864671.1:p.Ile1891AsnfsTer6 | |
| XM_017009183.1:c.5671dup | XP_016864672.1:p.Ile1891AsnfsTer6 | |
| XM_017009184.1:c.5671dup | XP_016864673.1:p.Ile1891AsnfsTer6 | |
| XM_017009185.1:c.760dup | XP_016864674.1:p.Ile254AsnfsTer6 | |
| XM_017009186.1:c.313dup | XP_016864675.1:p.Ile105AsnfsTer6 | |
| XM_017009187.1:c.5671dup | XP_016864676.1:p.Ile1891AsnfsTer6 | |
| XM_024454388.1:c.4576dup | XP_024310156.1:p.Ile1526AsnfsTer6 | |
| XM_024454389.1:c.4165dup | XP_024310157.1:p.Ile1389AsnfsTer6 | |
| XR_001742034.1:n.5688dup | ||
| XR_001742035.1:n.5688dup | ||
| NM_001369.3:c.5563dup MANE Select | NP_001360.1:p.Ile1855AsnfsTer6 |