Linked Data
ClinVar Variation Id:
41208
dbSNP Id:
rs267606578
gnomAD v4:
11-67490802-T-TACTTCAAGCGGGGCAAGGCCC
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490805_67490825dup , CM000673.2:g.67490805_67490825dup | GRCh38 |
| NC_000011.9:g.67258276_67258296dup , CM000673.1:g.67258276_67258296dup | GRCh37 |
| NC_000011.8:g.67014852_67014872dup | NCBI36 |
| NG_008969.1:g.12772_12792dup , LRG_460:g.12772_12792dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.1112_1132dup | ||
| ENST00000528641.7:c.616_636dup | ENSP00000434982.3:p.His212_Ala213insPheLy... | |
| ENST00000529797.2:n.1647_1667dup | ||
| ENST00000682324.1:c.469-192_469-172dup | ENSP00000508017.1:n.469-192_469-172dup | |
| ENST00000682659.1:c.436_456dup | ENSP00000507351.1:p.His152_Ala153insPheLy... | |
| ENST00000682699.1:c.805_825dup | ENSP00000507935.1:p.His275_Ala276insPheLy... | |
| ENST00000683237.1:c.797_817dup | ENSP00000507343.1:p.Pro272_Arg273insLeuGl... | |
| ENST00000683856.1:c.628_648dup | ENSP00000507979.1:p.His216_Ala217insPheLy... | |
| ENST00000684006.1:c.794_814dup | ENSP00000507269.1:p.Pro271_Arg272insLeuGl... | |
| ENST00000684657.1:c.625_645dup | ENSP00000507961.1:p.His215_Ala216insPheLy... | |
| ENST00000279146.8:c.805_825dup MANE Select | ENSP00000279146.3:p.His275_Ala276insPheLy... | |
| ENST00000279146.7:c.805_825dup | ENSP00000279146.3:p.His275_Ala276insPheLy... | |
| ENST00000528641.6:c.616_636dup | ENSP00000434982.2:p.His212_Ala213insPheLy... | |
| NM_001302959.1:c.628_648dup | NP_001289888.1:p.His216_Ala217insPheLysAr... | |
| NM_001302960.1:c.797_817dup | NP_001289889.1:p.Pro272_Arg273insLeuGlnAl... | |
| NM_003977.3:c.805_825dup | NP_003968.3:p.His275_Ala276insPheLysArgGl... | |
| XM_024448761.1:c.805_825dup | XP_024304529.1:p.His275_Ala276insPheLysAr... | |
| NM_003977.4:c.805_825dup MANE Select | NP_003968.3:p.His275_Ala276insPheLysArgGl... | |
| NM_001302960.2:c.797_817dup | NP_001289889.1:p.Pro272_Arg273insLeuGlnAl... | |
| NM_001302959.2:c.628_648dup | NP_001289888.1:p.His216_Ala217insPheLysAr... |