Linked Data
dbSNP Id:
rs1169896321
gnomAD v3:
11-57614650-T-TGCC
gnomAD v4:
11-57614650-T-TGCC
MyVariant Identifiers:
chr11:g.57382123_57382124insGCC (hg19)
chr11:g.57614650_57614651insGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57614651_57614653dup , CM000673.2:g.57614651_57614653dup | GRCh38 |
| NC_000011.9:g.57382124_57382126dup , CM000673.1:g.57382124_57382126dup | GRCh37 |
| NC_000011.8:g.57138700_57138702dup | NCBI36 |
| NG_009625.1:g.22098_22100dup , LRG_105:g.22098_22100dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278407.9:c.*70_*72dup MANE Select | ENSP00000278407.4:n.*70_*72dup | |
| ENST00000528996.2:c.*470_*472dup | ENSP00000431226.2:n.*470_*472dup | |
| ENST00000531605.2:c.*1349_*1351dup | ENSP00000503752.1:n.*1349_*1351dup | |
| ENST00000619430.2:c.*70_*72dup | ENSP00000478572.2:n.*70_*72dup | |
| ENST00000676670.1:c.*15+55_*15+57dup | ENSP00000504807.1:n.*15+55_*15+57dup | |
| ENST00000676741.1:n.2655_2657dup | ||
| ENST00000677624.1:c.*993_*995dup | ENSP00000503979.1:n.*993_*995dup | |
| ENST00000677625.1:c.*70_*72dup | ENSP00000502857.1:n.*70_*72dup | |
| ENST00000677856.1:n.1826_1828dup | ||
| ENST00000677915.1:c.*470_*472dup | ENSP00000503118.1:n.*470_*472dup | |
| ENST00000678533.1:c.*1072+55_*1072+57dup | ENSP00000503873.1:n.*1072+55_*1072+57dup | |
| ENST00000678592.1:c.*513_*515dup | ENSP00000504424.1:n.*513_*515dup | |
| ENST00000278407.8:c.*70_*72dup | ENSP00000278407.4:n.*70_*72dup | |
| ENST00000340687.10:c.*70_*72dup | ENSP00000341861.6:n.*70_*72dup | |
| ENST00000378323.8:c.*70_*72dup | ENSP00000367574.4:n.*70_*72dup | |
| ENST00000378324.6:c.*70_*72dup | ENSP00000367575.2:n.*70_*72dup | |
| ENST00000403558.1:c.*70_*72dup | ENSP00000384420.1:n.*70_*72dup | |
| ENST00000528996.1:c.774_776dup | ENSP00000431226.1:n.774_776dup | |
| ENST00000531797.5:c.*598_*600dup | ENSP00000432554.1:n.*598_*600dup | |
| NM_000062.2:c.*70_*72dup , LRG_105t1:c.*70_*72dup | NP_000053.2:n.*70_*72dup | |
| NM_001032295.1:c.*70_*72dup | NP_001027466.1:n.*70_*72dup | |
| NM_000062.3:c.*70_*72dup MANE Select | NP_000053.2:n.*70_*72dup | |
| NM_001032295.2:c.*70_*72dup | NP_001027466.1:n.*70_*72dup |