Linked Data
ClinVar Variation Id:
556649
ClinVar RCV Id:
RCV000672681
dbSNP Id:
rs1554934457
gnomAD v4:
11-6391957-CTGACCACCG-C
MyVariant Identifiers:
chr11:g.6391959_6391967del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6391959_6391967del , CM000673.2:g.6391959_6391967del | GRCh38 |
| NC_000011.9:g.6413189_6413197del , CM000673.1:g.6413189_6413197del | GRCh37 |
| NC_000011.8:g.6369765_6369773del | NCBI36 |
| NG_011780.1:g.6535_6543del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.894_902del MANE Select | ENSP00000340409.4:p.Thr299_Val301del | |
| ENST00000342245.8:c.894_902del | ENSP00000340409.4:p.Thr299_Val301del | |
| ENST00000526280.1:c.83_91del | ||
| ENST00000527275.5:c.891_899del | ENSP00000435350.1:p.Thr298_Val300del | |
| ENST00000530395.1:c.75_83del | ENSP00000431479.1:p.Thr26_Val28del | |
| ENST00000531303.5:c.438+456_438+464del | ENSP00000432625.1:n.438+456_438+464del | |
| ENST00000533123.5:c.894_902del | ENSP00000435950.1:p.Thr299_Val301del | |
| ENST00000533196.1:n.375-47_375-39del | ||
| ENST00000534405.5:c.894_902del | ENSP00000434353.1:p.Thr299_Val301del | |
| NM_000543.4:c.894_902del | NP_000534.3:p.Thr299_Val301del | |
| NM_001007593.2:c.891_899del | NP_001007594.2:p.Thr298_Val300del | |
| XM_005253075.3:c.894_902del | XP_005253132.1:p.Thr299_Val301del | |
| XM_011520303.1:c.894_902del | XP_011518605.1:p.Thr299_Val301del | |
| XM_011520304.1:c.894_902del | XP_011518606.1:p.Thr299_Val301del | |
| XR_930886.1:n.1192_1200del | ||
| NM_001318087.1:c.894_902del | NP_001305016.1:p.Thr299_Val301del | |
| NM_001318088.1:c.-68_-60del | NP_001305017.1:n.-68_-60del | |
| NM_001365135.1:c.894_902del | NP_001352064.1:p.Thr299_Val301del | |
| NR_027400.2:n.1079_1087del | ||
| NR_134502.1:n.623+456_623+464del | ||
| XM_011520304.2:c.894_902del | XP_011518606.1:p.Thr299_Val301del | |
| XR_001747940.2:n.1019_1027del | ||
| XR_002957158.1:n.1019_1027del | ||
| NM_000543.5:c.894_902del MANE Select | NP_000534.3:p.Thr299_Val301del | |
| NM_001007593.3:c.891_899del | NP_001007594.2:p.Thr298_Val300del | |
| NM_001318087.2:c.894_902del | NP_001305016.1:p.Thr299_Val301del | |
| NM_001318088.2:c.-68_-60del | NP_001305017.1:n.-68_-60del | |
| NM_001365135.2:c.894_902del | NP_001352064.1:p.Thr299_Val301del | |
| NR_027400.3:n.1019_1027del | ||
| NR_134502.2:n.563+456_563+464del |