Linked Data
ClinVar Variation Id:
212271
ClinVar RCV Id:
RCV000193639
dbSNP Id:
rs797045995
MyVariant Identifiers:
chr10:g.112349673_112349675dupCAG (hg19)
chr10:g.110589915_110589917dupCAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589915_110589917dup , CM000672.2:g.110589915_110589917dup | GRCh38 |
| NC_000010.10:g.112349673_112349675dup , CM000672.1:g.112349673_112349675dup | GRCh37 |
| NC_000010.9:g.112339663_112339665dup | NCBI36 |
| NG_012217.1:g.27225_27227dup , LRG_774:g.27225_27227dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1333_1335dup | ||
| ENST00000684988.1:n.2078_2080dup | ||
| ENST00000687823.1:n.1347_1349dup | ||
| ENST00000689932.1:n.3496_3498dup | ||
| ENST00000691297.1:n.1566_1568dup | ||
| ENST00000691527.1:n.2236_2238dup | ||
| ENST00000692792.1:n.1552_1554dup | ||
| ENST00000361804.5:c.1433_1435dup MANE Select | ENSP00000354720.5:p.Ala478_Glu479insAla | |
| ENST00000361804.4:c.1433_1435dup | ENSP00000354720.4:p.Ala478_Glu479insAla | |
| NM_005445.3:c.1433_1435dup , LRG_774t1:c.1433_1435dup | NP_005436.1:p.Ala478_Glu479insAla | |
| NM_005445.4:c.1433_1435dup MANE Select | NP_005436.1:p.Ala478_Glu479insAla |