Linked Data
ClinVar Variation Id:
335496
ClinVar RCV Id:
RCV000360209
dbSNP Id:
rs745546639
ExAC:
2:27322312 TGAG / T
gnomAD v2:
2-27322312-TGAG-T
gnomAD v3:
2-27099444-TGAG-T
gnomAD v4:
2-27099444-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27099449_27099451del , CM000664.2:g.27099449_27099451del | GRCh38 |
| NC_000002.11:g.27322317_27322319del , CM000664.1:g.27322317_27322319del | GRCh37 |
| NC_000002.10:g.27175821_27175823del | NCBI36 |
| NG_012199.1:g.17707_17709del | |
| NG_012199.2:g.17707_17709del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000640154.2:c.884_886del (CGREF1) | ||
| ENST00000260599.11:c.683_685del (KHK) | ENSP00000260599.6:p.Glu228del | |
| ENST00000429697.2:c.818_820del (KHK) | ENSP00000404741.2:p.Glu273del | |
| ENST00000260598.10:c.683_685del (KHK) MANE Select | ENSP00000260598.5:p.Glu228del | |
| ENST00000260598.9:c.683_685del (KHK) | ENSP00000260598.5:p.Glu228del | |
| ENST00000260599.10:c.683_685del (KHK) | ENSP00000260599.6:p.Glu228del | |
| ENST00000402550.5:c.*337_*339del (CGREF1) | ENSP00000385103.1:n.*337_*339del | |
| ENST00000429697.1:c.818_820del (KHK) | ENSP00000404741.1:p.Glu273del | |
| ENST00000440612.5:c.*700_*702del (CGREF1) | ENSP00000394306.1:n.*700_*702del | |
| ENST00000464371.1:n.609_611del (KHK) | ||
| ENST00000490823.5:n.1031_1033del (KHK) | ||
| NM_000221.2:c.683_685del (KHK) | NP_000212.1:p.Glu228del | |
| NM_001166240.1:c.*337_*339del (CGREF1) | NP_001159712.1:n.*337_*339del | |
| NM_001301324.1:c.*414_*416del (CGREF1) | NP_001288253.1:n.*414_*416del | |
| NM_006488.2:c.683_685del (KHK) | NP_006479.1:p.Glu228del | |
| XM_005264294.2:c.821_823del (KHK) | XP_005264351.1:p.Glu274del | |
| XM_005264296.2:c.686_688del (KHK) | XP_005264353.1:p.Glu229del | |
| XM_005264298.2:c.431_433del (KHK) | XP_005264355.1:p.Glu144del | |
| XM_005264294.4:c.821_823del (KHK) | XP_005264351.1:p.Glu274del | |
| XM_005264296.4:c.686_688del (KHK) | XP_005264353.1:p.Glu229del | |
| XM_005264298.4:c.431_433del (KHK) | XP_005264355.1:p.Glu144del | |
| XM_017004060.2:c.818_820del (KHK) | XP_016859549.1:p.Glu273del | |
| XM_017004061.2:c.548_550del (KHK) | XP_016859550.1:p.Glu183del | |
| NM_006488.3:c.683_685del (KHK) MANE Select | NP_006479.1:p.Glu228del | |
| NM_000221.3:c.683_685del (KHK) | NP_000212.1:p.Glu228del | |
| NM_001166240.2:c.*337_*339del (CGREF1) | NP_001159712.1:n.*337_*339del | |
| NM_001301324.2:c.*414_*416del (CGREF1) | NP_001288253.1:n.*414_*416del |