Linked Data
dbSNP Id:
rs1564918088
gnomAD v2:
11-2188132-A-AGACGTCCTCCAGCTGGGG
gnomAD v4:
11-2166902-A-AGACGTCCTCCAGCTGGGG
MyVariant Identifiers:
chr11:g.2188132_2188133insGACGTCCTCCAGCTGGGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166905_2166922dup , CM000673.2:g.2166905_2166922dup | GRCh38 |
| NC_000011.9:g.2188135_2188152dup , CM000673.1:g.2188135_2188152dup | GRCh37 |
| NC_000011.8:g.2144711_2144728dup | NCBI36 |
| NG_008128.1:g.9886_9903dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.808_825dup MANE Select | ENSP00000325951.4:p.Val275_Ser276insProGlnLeuGluAspVal | |
| ENST00000324155.8:c.*497_*514dup | ENSP00000325831.3:n.*497_*514dup | |
| ENST00000333684.9:c.696-371_696-354dup | ENSP00000328814.6:n.696-371_696-354dup | |
| ENST00000352909.7:c.808_825dup | ENSP00000325951.3:p.Val275_Ser276insProGlnLeuGluAspVal | |
| ENST00000381168.7:c.*528_*545dup | ENSP00000370560.3:n.*528_*545dup | |
| ENST00000381175.5:c.889_906dup | ENSP00000370567.1:p.Val302_Ser303insProGlnLeuGluAspVal | |
| ENST00000381178.5:c.901_918dup | ENSP00000370571.1:p.Val306_Ser307insProGlnLeuGluAspVal | |
| ENST00000412076.1:c.136-371_136-354dup | ||
| ENST00000416223.5:c.136-152_136-135dup | ||
| ENST00000469226.1:n.937_954dup | ||
| ENST00000479437.5:n.357_374dup | ||
| NM_000360.3:c.808_825dup | NP_000351.2:p.Val275_Ser276insProGlnLeuGluAspVal | |
| NM_199292.2:c.901_918dup | NP_954986.2:p.Val306_Ser307insProGlnLeuGluAspVal | |
| NM_199293.2:c.889_906dup | NP_954987.2:p.Val302_Ser303insProGlnLeuGluAspVal | |
| XM_011520335.1:c.820_837dup | XP_011518637.1:p.Val279_Ser280insProGlnLeuGluAspVal | |
| XM_011520335.2:c.820_837dup | XP_011518637.1:p.Val279_Ser280insProGlnLeuGluAspVal | |
| NM_000360.4:c.808_825dup MANE Select | NP_000351.2:p.Val275_Ser276insProGlnLeuGluAspVal | |
| NM_199292.3:c.901_918dup | NP_954986.2:p.Val306_Ser307insProGlnLeuGluAspVal | |
| NM_199293.3:c.889_906dup | NP_954987.2:p.Val302_Ser303insProGlnLeuGluAspVal |