Linked Data
dbSNP Id:
rs1565311604
gnomAD v2:
11-116626307-A-ACTAC
gnomAD v3:
11-116755591-A-ACTAC
gnomAD v4:
11-116755591-A-ACTAC
MyVariant Identifiers:
chr11:g.116626307_116626308insCTAC (hg19)
chr11:g.116755591_116755592insCTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116755595_116755598dup , CM000673.2:g.116755595_116755598dup | GRCh38 |
| NC_000011.9:g.116626311_116626314dup , CM000673.1:g.116626311_116626314dup | GRCh37 |
| NC_000011.8:g.116131521_116131524dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.1766+1551_1766+1554dup MANE Select | ENSP00000260210.3:n.1766+1551_1766+1554dup | |
| ENST00000260210.4:c.1766+1551_1766+1554dup | ENSP00000260210.3:n.1766+1551_1766+1554dup | |
| ENST00000375445.7:c.1364+1551_1364+1554dup | ENSP00000364594.3:n.1364+1551_1364+1554dup | |
| ENST00000419189.1:c.541+1551_541+1554dup | ||
| NM_001159736.1:c.1364+1551_1364+1554dup | NP_001153208.1:n.1364+1551_1364+1554dup | |
| NM_032725.3:c.1766+1551_1766+1554dup | NP_116114.1:n.1766+1551_1766+1554dup | |
| XM_011543035.1:c.1667+1551_1667+1554dup | XP_011541337.1:n.1667+1551_1667+1554dup | |
| XM_011543035.2:c.1667+1551_1667+1554dup | XP_011541337.1:n.1667+1551_1667+1554dup | |
| NM_032725.4:c.1766+1551_1766+1554dup MANE Select | NP_116114.1:n.1766+1551_1766+1554dup | |
| NM_001159736.2:c.1364+1551_1364+1554dup | NP_001153208.1:n.1364+1551_1364+1554dup |