Linked Data
dbSNP Id:
rs1564922363
gnomAD v2:
11-6412188-T-TGCTGGGGCTGGGG
gnomAD v4:
11-6390958-T-TGCTGGGGCTGGGG
MyVariant Identifiers:
chr11:g.6412188_6412189insGCTGGGGCTGGGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390969_6390981dup , CM000673.2:g.6390969_6390981dup | GRCh38 |
| NC_000011.9:g.6412199_6412211dup , CM000673.1:g.6412199_6412211dup | GRCh37 |
| NC_000011.8:g.6368775_6368787dup | NCBI36 |
| NG_011780.1:g.5545_5557dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.318+53_318+65dup MANE Select | ENSP00000340409.4:n.318+53_318+65dup | |
| ENST00000342245.8:c.318+53_318+65dup | ENSP00000340409.4:n.318+53_318+65dup | |
| ENST00000527275.5:c.318+53_318+65dup | ENSP00000435350.1:n.318+53_318+65dup | |
| ENST00000530395.1:c.-96+330_-96+342dup | ENSP00000431479.1:n.-96+330_-96+342dup | |
| ENST00000531303.5:c.318+53_318+65dup | ENSP00000432625.1:n.318+53_318+65dup | |
| ENST00000533123.5:c.318+53_318+65dup | ENSP00000435950.1:n.318+53_318+65dup | |
| ENST00000533196.1:n.374+156_374+168dup | ||
| ENST00000534405.5:c.318+53_318+65dup | ENSP00000434353.1:n.318+53_318+65dup | |
| NM_000543.4:c.318+53_318+65dup | NP_000534.3:n.318+53_318+65dup | |
| NM_001007593.2:c.318+53_318+65dup | NP_001007594.2:n.318+53_318+65dup | |
| XM_005253075.3:c.318+53_318+65dup | XP_005253132.1:n.318+53_318+65dup | |
| XM_011520303.1:c.318+53_318+65dup | XP_011518605.1:n.318+53_318+65dup | |
| XM_011520304.1:c.318+53_318+65dup | XP_011518606.1:n.318+53_318+65dup | |
| XR_930886.1:n.616+53_616+65dup | ||
| NM_001318087.1:c.318+53_318+65dup | NP_001305016.1:n.318+53_318+65dup | |
| NM_001318088.1:c.-644+53_-644+65dup | NP_001305017.1:n.-644+53_-644+65dup | |
| NM_001365135.1:c.318+53_318+65dup | NP_001352064.1:n.318+53_318+65dup | |
| NR_027400.2:n.503+53_503+65dup | ||
| NR_134502.1:n.503+53_503+65dup | ||
| XM_011520304.2:c.318+53_318+65dup | XP_011518606.1:n.318+53_318+65dup | |
| XR_001747940.2:n.443+53_443+65dup | ||
| XR_002957158.1:n.443+53_443+65dup | ||
| NM_000543.5:c.318+53_318+65dup MANE Select | NP_000534.3:n.318+53_318+65dup | |
| NM_001007593.3:c.318+53_318+65dup | NP_001007594.2:n.318+53_318+65dup | |
| NM_001318087.2:c.318+53_318+65dup | NP_001305016.1:n.318+53_318+65dup | |
| NM_001318088.2:c.-644+53_-644+65dup | NP_001305017.1:n.-644+53_-644+65dup | |
| NM_001365135.2:c.318+53_318+65dup | NP_001352064.1:n.318+53_318+65dup | |
| NR_027400.3:n.443+53_443+65dup | ||
| NR_134502.2:n.443+53_443+65dup |