Linked Data
ClinVar Variation Id:
102493
dbSNP Id:
rs62516157
MyVariant Identifiers:
chr12:g.103238131_103238132insTGAC (hg19)
chr12:g.102844353_102844354insTGAC (hg38)
ERepo:
CA229303/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844354_102844357dup , CM000674.2:g.102844354_102844357dup | GRCh38 |
| NC_000012.11:g.103238132_103238135dup , CM000674.1:g.103238132_103238135dup | GRCh37 |
| NC_000012.10:g.101762262_101762265dup | NCBI36 |
| NG_008690.1:g.78246_78249dup | |
| NG_008690.2:g.119054_119057dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1044_1047dup MANE Select | ENSP00000448059.1:p.Ser350ValfsTer5 | |
| ENST00000307000.7:c.1029_1032dup | ENSP00000303500.2:p.Ser345ValfsTer5 | |
| ENST00000549247.6:n.803_806dup | ||
| ENST00000551114.2:n.706_709dup | ||
| ENST00000553106.5:c.1044_1047dup | ENSP00000448059.1:p.Ser350ValfsTer5 | |
| ENST00000635477.1:c.148_151dup | ||
| ENST00000635528.1:n.559_562dup | ||
| NM_000277.1:c.1044_1047dup | NP_000268.1:p.Ser350ValfsTer5 | |
| XM_011538422.1:c.987_990dup | XP_011536724.1:p.Ser331ValfsTer5 | |
| NM_000277.2:c.1044_1047dup | NP_000268.1:p.Ser350ValfsTer5 | |
| NM_001354304.1:c.1044_1047dup | NP_001341233.1:p.Ser350ValfsTer5 | |
| NM_000277.3:c.1044_1047dup MANE Select | NP_000268.1:p.Ser350ValfsTer5 | |
| NM_001354304.2:c.1044_1047dup | NP_001341233.1:p.Ser350ValfsTer5 |