Linked Data
ClinVar Variation Id:
552216
ClinVar RCV Id:
RCV000667440
dbSNP Id:
rs1554934463
MyVariant Identifiers:
chr11:g.6391963_6391965dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391963_6391965dup , CM000673.2:g.6391963_6391965dup | GRCh38 |
| NC_000011.9:g.6413193_6413195dup , CM000673.1:g.6413193_6413195dup | GRCh37 |
| NC_000011.8:g.6369769_6369771dup | NCBI36 |
| NG_011780.1:g.6539_6541dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342245.9:c.898_900dup MANE Select | ENSP00000340409.4:p.Thr300_Val301insThr | |
| ENST00000342245.8:c.898_900dup | ENSP00000340409.4:p.Thr300_Val301insThr | |
| ENST00000526280.1:c.87_89dup | ||
| ENST00000527275.5:c.895_897dup | ENSP00000435350.1:p.Thr299_Val300insThr | |
| ENST00000530395.1:c.79_81dup | ENSP00000431479.1:p.Thr27_Val28insThr | |
| ENST00000531303.5:c.438+460_438+462dup | ENSP00000432625.1:n.438+460_438+462dup | |
| ENST00000533123.5:c.898_900dup | ENSP00000435950.1:p.Thr300_Val301insThr | |
| ENST00000533196.1:n.375-43_375-41dup | ||
| ENST00000534405.5:c.898_900dup | ENSP00000434353.1:p.Thr300_Val301insThr | |
| NM_000543.4:c.898_900dup | NP_000534.3:p.Thr300_Val301insThr | |
| NM_001007593.2:c.895_897dup | NP_001007594.2:p.Thr299_Val300insThr | |
| XM_005253075.3:c.898_900dup | XP_005253132.1:p.Thr300_Val301insThr | |
| XM_011520303.1:c.898_900dup | XP_011518605.1:p.Thr300_Val301insThr | |
| XM_011520304.1:c.898_900dup | XP_011518606.1:p.Thr300_Val301insThr | |
| XR_930886.1:n.1196_1198dup | ||
| NM_001318087.1:c.898_900dup | NP_001305016.1:p.Thr300_Val301insThr | |
| NM_001318088.1:c.-64_-62dup | NP_001305017.1:n.-64_-62dup | |
| NM_001365135.1:c.898_900dup | NP_001352064.1:p.Thr300_Val301insThr | |
| NR_027400.2:n.1083_1085dup | ||
| NR_134502.1:n.623+460_623+462dup | ||
| XM_011520304.2:c.898_900dup | XP_011518606.1:p.Thr300_Val301insThr | |
| XR_001747940.2:n.1023_1025dup | ||
| XR_002957158.1:n.1023_1025dup | ||
| NM_000543.5:c.898_900dup MANE Select | NP_000534.3:p.Thr300_Val301insThr | |
| NM_001007593.3:c.895_897dup | NP_001007594.2:p.Thr299_Val300insThr | |
| NM_001318087.2:c.898_900dup | NP_001305016.1:p.Thr300_Val301insThr | |
| NM_001318088.2:c.-64_-62dup | NP_001305017.1:n.-64_-62dup | |
| NM_001365135.2:c.898_900dup | NP_001352064.1:p.Thr300_Val301insThr | |
| NR_027400.3:n.1023_1025dup | ||
| NR_134502.2:n.563+460_563+462dup |