Linked Data
dbSNP Id:
rs11392906
gnomAD v2:
12-20857273-T-TC
gnomAD v3:
12-20704339-T-TC
gnomAD v4:
12-20704339-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20704339_20704340insC , CM000674.2:g.20704339_20704340insC | GRCh38 |
| NC_000012.11:g.20857273_20857274insC , CM000674.1:g.20857273_20857274insC | GRCh37 |
| NC_000012.10:g.20748540_20748541insC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266509.7:c.272-1610_272-1609insC MANE Select | ENSP00000266509.2:n.272-1610_272-1609insC | |
| ENST00000266509.6:c.272-1610_272-1609insC | ENSP00000266509.2:n.272-1610_272-1609insC | |
| ENST00000539415.5:c.129+4634_129+4635insC | ENSP00000437399.1:n.129+4634_129+4635insC | |
| ENST00000540354.5:c.272-1610_272-1609insC | ENSP00000438665.1:n.272-1610_272-1609insC | |
| ENST00000545102.1:c.-83-1610_-83-1609insC | ENSP00000444527.1:n.-83-1610_-83-1609insC | |
| ENST00000545604.5:c.272-1610_272-1609insC | ENSP00000444149.1:n.272-1610_272-1609insC | |
| NM_001145944.1:c.-83-1610_-83-1609insC | NP_001139416.1:n.-83-1610_-83-1609insC | |
| NM_001145945.1:c.272-1610_272-1609insC | NP_001139417.1:n.272-1610_272-1609insC | |
| NM_001145946.1:c.272-1610_272-1609insC | NP_001139418.1:n.272-1610_272-1609insC | |
| NM_017435.4:c.272-1610_272-1609insC | NP_059131.1:n.272-1610_272-1609insC | |
| XM_005253394.1:c.272-1610_272-1609insC | XP_005253451.1:n.272-1610_272-1609insC | |
| XM_005253396.1:c.-83-1610_-83-1609insC | XP_005253453.1:n.-83-1610_-83-1609insC | |
| XM_005253397.2:c.272-1610_272-1609insC | XP_005253454.1:n.272-1610_272-1609insC | |
| XM_011520703.1:c.272-1610_272-1609insC | XP_011519005.1:n.272-1610_272-1609insC | |
| XM_011520704.1:c.272-1610_272-1609insC | XP_011519006.1:n.272-1610_272-1609insC | |
| XM_011520705.1:c.272-1610_272-1609insC | XP_011519007.1:n.272-1610_272-1609insC | |
| XM_011520706.1:c.-83-1610_-83-1609insC | XP_011519008.1:n.-83-1610_-83-1609insC | |
| XM_011520707.1:c.-83-1610_-83-1609insC | XP_011519009.1:n.-83-1610_-83-1609insC | |
| XM_011520708.1:c.-83-1610_-83-1609insC | XP_011519010.1:n.-83-1610_-83-1609insC | |
| XM_011520709.1:c.-83-1610_-83-1609insC | XP_011519011.1:n.-83-1610_-83-1609insC | |
| XM_011520710.1:c.272-1610_272-1609insC | XP_011519012.1:n.272-1610_272-1609insC | |
| XM_011520711.1:c.-282-1610_-282-1609insC | XP_011519013.1:n.-282-1610_-282-1609insC | |
| XR_931308.1:n.627-1610_627-1609insC | ||
| XM_005253394.3:c.272-1610_272-1609insC | XP_005253451.1:n.272-1610_272-1609insC | |
| XM_005253396.3:c.-83-1610_-83-1609insC | XP_005253453.1:n.-83-1610_-83-1609insC | |
| XM_011520703.3:c.272-1610_272-1609insC | XP_011519005.1:n.272-1610_272-1609insC | |
| XM_011520704.3:c.272-1610_272-1609insC | XP_011519006.1:n.272-1610_272-1609insC | |
| XM_011520711.3:c.-282-1610_-282-1609insC | XP_011519013.1:n.-282-1610_-282-1609insC | |
| XM_017019486.2:c.-83-1610_-83-1609insC | XP_016874975.1:n.-83-1610_-83-1609insC | |
| XM_017019487.2:c.-83-1610_-83-1609insC | XP_016874976.1:n.-83-1610_-83-1609insC | |
| XM_017019489.2:c.-439-1610_-439-1609insC | XP_016874978.1:n.-439-1610_-439-1609insC | |
| XM_017019490.2:c.-403-1610_-403-1609insC | XP_016874979.1:n.-403-1610_-403-1609insC | |
| XM_024449024.1:c.-83-1610_-83-1609insC | XP_024304792.1:n.-83-1610_-83-1609insC | |
| XM_024449025.1:c.-83-1610_-83-1609insC | XP_024304793.1:n.-83-1610_-83-1609insC | |
| XR_001748768.2:n.13685-1610_13685-1609insC | ||
| XR_001748769.2:n.13685-1610_13685-1609insC | ||
| XR_001748770.2:n.13685-1610_13685-1609insC | ||
| XR_001748771.2:n.14182-1610_14182-1609insC | ||
| NM_001145944.2:c.-83-1610_-83-1609insC | NP_001139416.1:n.-83-1610_-83-1609insC | |
| NM_001145945.2:c.272-1610_272-1609insC | NP_001139417.1:n.272-1610_272-1609insC | |
| NM_001145946.2:c.272-1610_272-1609insC | NP_001139418.1:n.272-1610_272-1609insC | |
| NM_017435.5:c.272-1610_272-1609insC MANE Select | NP_059131.1:n.272-1610_272-1609insC |