Linked Data
ClinVar Variation Id:
409812
ClinVar RCV Id:
RCV000462686
dbSNP Id:
rs1555894743
COSMIC:
COSM25128
MyVariant Identifiers:
chr21:g.36231852_36231854dupTGA (hg19)
chr21:g.36231851_36231852insTGA (hg19)
chr21:g.34859555_34859557dupTGA (hg38)
chr21:g.34859554_34859555insTGA (hg38)
ERepo:
CA16616526/MONDO:0100083/008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34859557_34859559dup , CM000683.2:g.34859557_34859559dup | GRCh38 |
| NC_000021.8:g.36231854_36231856dup , CM000683.1:g.36231854_36231856dup | GRCh37 |
| NC_000021.7:g.35153724_35153726dup | NCBI36 |
| NG_011402.2:g.1130155_1130157dup , LRG_482:g.1130155_1130157dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.530_532dup MANE Select | ENSP00000501943.1:p.Ile177_Thr178insIle | |
| ENST00000300305.7:c.530_532dup | ENSP00000300305.3:p.Ile177_Thr178insIle | |
| ENST00000344691.8:c.449_451dup | ENSP00000340690.4:p.Ile150_Thr151insIle | |
| ENST00000358356.9:c.449_451dup | ENSP00000351123.5:p.Ile150_Thr151insIle | |
| ENST00000399237.6:c.494_496dup | ENSP00000382182.2:p.Ile165_Thr166insIle | |
| ENST00000399240.5:c.449_451dup | ENSP00000382184.1:p.Ile150_Thr151insIle | |
| ENST00000437180.5:c.530_532dup | ENSP00000409227.1:p.Ile177_Thr178insIle | |
| ENST00000467577.1:n.22_24dup | ||
| ENST00000482318.5:c.*120_*122dup | ENSP00000477067.1:n.*120_*122dup | |
| NM_001001890.2:c.449_451dup | NP_001001890.1:p.Ile150_Thr151insIle | |
| NM_001122607.1:c.449_451dup | NP_001116079.1:p.Ile150_Thr151insIle | |
| NM_001754.4:c.530_532dup , LRG_482t1:c.530_532dup | NP_001745.2:p.Ile177_Thr178insIle | |
| XM_005261068.3:c.494_496dup | XP_005261125.1:p.Ile165_Thr166insIle | |
| XM_005261069.3:c.530_532dup | XP_005261126.1:p.Ile177_Thr178insIle | |
| XM_011529766.1:c.530_532dup | XP_011528068.1:p.Ile177_Thr178insIle | |
| XM_011529767.1:c.491_493dup | XP_011528069.1:p.Ile164_Thr165insIle | |
| XM_011529768.1:c.491_493dup | XP_011528070.1:p.Ile164_Thr165insIle | |
| XM_011529770.1:c.530_532dup | XP_011528072.1:p.Ile177_Thr178insIle | |
| XR_937576.1:n.709_711dup | ||
| XM_005261069.4:c.530_532dup | XP_005261126.1:p.Ile177_Thr178insIle | |
| XM_011529766.2:c.530_532dup | XP_011528068.1:p.Ile177_Thr178insIle | |
| XM_011529767.2:c.491_493dup | XP_011528069.1:p.Ile164_Thr165insIle | |
| XM_011529768.2:c.491_493dup | XP_011528070.1:p.Ile164_Thr165insIle | |
| XM_011529770.2:c.530_532dup | XP_011528072.1:p.Ile177_Thr178insIle | |
| XM_017028487.1:c.377_379dup | XP_016883976.1:p.Ile126_Thr127insIle | |
| XR_937576.2:n.756_758dup | ||
| NM_001001890.3:c.449_451dup | NP_001001890.1:p.Ile150_Thr151insIle | |
| NM_001122607.2:c.449_451dup | NP_001116079.1:p.Ile150_Thr151insIle | |
| NM_001754.5:c.530_532dup MANE Select | NP_001745.2:p.Ile177_Thr178insIle |