Linked Data
ClinVar Variation Id:
13930
ClinVar RCV Id:
RCV000014955
dbSNP Id:
rs377767436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114492_43114503dup , CM000672.2:g.43114492_43114503dup | GRCh38 |
| NC_000010.10:g.43609940_43609951dup , CM000672.1:g.43609940_43609951dup | GRCh37 |
| NC_000010.9:g.42929946_42929957dup | NCBI36 |
| NG_007489.1:g.42424_42435dup , LRG_518:g.42424_42435dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.1496_1507dup | ENSP00000480088.2:p.Cys502_Arg503insHisGl... | |
| ENST00000683007.1:n.1466_1477dup | ||
| ENST00000683872.1:n.1457_1468dup | ||
| ENST00000340058.6:c.1892_1903dup | ENSP00000344798.4:p.Cys634_Arg635insHisGl... | |
| ENST00000355710.8:c.1892_1903dup MANE Select | ENSP00000347942.3:p.Cys634_Arg635insHisGl... | |
| ENST00000671844.1:c.*486_*497dup | ENSP00000500541.1:n.*486_*497dup | |
| ENST00000672389.1:c.*486_*497dup | ENSP00000500252.1:n.*486_*497dup | |
| ENST00000340058.5:c.1892_1903dup | ENSP00000344798.4:p.Cys634_Arg635insHisGl... | |
| ENST00000355710.7:c.1892_1903dup | ENSP00000347942.3:p.Cys634_Arg635insHisGl... | |
| ENST00000498820.5:c.443_454dup | ENSP00000419080.1:p.Cys151_Arg152insHisGl... | |
| ENST00000615310.4:c.1289+3260_1289+3271dup | ENSP00000480088.1:n.1289+3260_1289+3271du... | |
| NM_020630.4:c.1892_1903dup , LRG_518t2:c.1892_1903dup | NP_065681.1:p.Cys634_Arg635insHisGluLeuCy... | |
| NM_020975.4:c.1892_1903dup , LRG_518t1:c.1892_1903dup | NP_066124.1:p.Cys634_Arg635insHisGluLeuCy... | |
| XM_011540027.1:c.1892_1903dup | XP_011538329.1:p.Cys634_Arg635insHisGluLe... | |
| NM_001355216.1:c.1130_1141dup | NP_001342145.1:p.Cys380_Arg381insHisGluLe... | |
| NM_020630.5:c.1892_1903dup | NP_065681.1:p.Cys634_Arg635insHisGluLeuCy... | |
| NM_020975.5:c.1892_1903dup | NP_066124.1:p.Cys634_Arg635insHisGluLeuCy... | |
| NM_020975.6:c.1892_1903dup MANE Select | NP_066124.1:p.Cys634_Arg635insHisGluLeuCy... | |
| NM_020630.6:c.1892_1903dup | NP_065681.1:p.Cys634_Arg635insHisGluLeuCy... |