Linked Data
ClinVar Variation Id:
120271
ClinVar RCV Id:
RCV000106352
dbSNP Id:
rs281865431
MyVariant Identifiers:
chr12:g.103288654_103288659dup (hg19)
chr12:g.103288655_103288660dupAGAAGG (hg19)
chr12:g.102894876_102894881dup (hg38)
chr12:g.102894877_102894882dupAGAAGG (hg38)
ERepo:
CA267647/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894877_102894882dup , CM000674.2:g.102894877_102894882dup | GRCh38 |
| NC_000012.11:g.103288655_103288660dup , CM000674.1:g.103288655_103288660dup | GRCh37 |
| NC_000012.10:g.101812785_101812790dup | NCBI36 |
| NG_008690.1:g.27722_27727dup | |
| NG_008690.2:g.68530_68535dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.206_211dup MANE Select | ENSP00000448059.1:p.Ser70_Arg71insProSer | |
| ENST00000307000.7:c.191_196dup | ENSP00000303500.2:p.Ser65_Arg66insProSer | |
| ENST00000546844.1:c.206_211dup | ENSP00000446658.1:p.Ser70_Arg71insProSer | |
| ENST00000548677.2:n.293_298dup | ||
| ENST00000548928.1:n.128_133dup | ||
| ENST00000549111.5:n.302_307dup | ||
| ENST00000550978.6:c.190_195dup | ||
| ENST00000551337.5:c.206_211dup | ENSP00000447620.1:p.Ser70_Arg71insProSer | |
| ENST00000551988.5:n.295_300dup | ||
| ENST00000553106.5:c.206_211dup | ENSP00000448059.1:p.Ser70_Arg71insProSer | |
| ENST00000635500.1:n.174_179dup | ||
| NM_000277.1:c.206_211dup | NP_000268.1:p.Ser70_Arg71insProSer | |
| XM_011538422.1:c.206_211dup | XP_011536724.1:p.Ser70_Arg71insProSer | |
| NM_000277.2:c.206_211dup | NP_000268.1:p.Ser70_Arg71insProSer | |
| NM_001354304.1:c.206_211dup | NP_001341233.1:p.Ser70_Arg71insProSer | |
| XM_017019370.2:c.206_211dup | XP_016874859.1:p.Ser70_Arg71insProSer | |
| NM_000277.3:c.206_211dup MANE Select | NP_000268.1:p.Ser70_Arg71insProSer | |
| NM_001354304.2:c.206_211dup | NP_001341233.1:p.Ser70_Arg71insProSer |