Linked Data
dbSNP Id:
rs1023891728
gnomAD v2:
11-10228842-A-AG
gnomAD v3:
11-10207295-A-AG
gnomAD v4:
11-10207295-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10207295_10207296insG , CM000673.2:g.10207295_10207296insG | GRCh38 |
| NC_000011.9:g.10228842_10228843insG , CM000673.1:g.10228842_10228843insG | GRCh37 |
| NC_000011.8:g.10185418_10185419insG | NCBI36 |
| NG_008074.1:g.91912_91913insC , LRG_267:g.91912_91913insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526353.2:n.206-13309_206-13308insC | ||
| ENST00000533770.6:c.56-13309_56-13308insC | ENSP00000509247.1:n.56-13309_56-13308insC... | |
| ENST00000675281.2:c.56-13309_56-13308insC | ENSP00000502491.1:n.56-13309_56-13308insC... | |
| ENST00000676324.2:c.56-13309_56-13308insC | ENSP00000502578.1:n.56-13309_56-13308insC... | |
| ENST00000676387.2:c.56-13309_56-13308insC | ENSP00000502779.1:n.56-13309_56-13308insC... | |
| ENST00000685217.1:n.387-13309_387-13308insC | ||
| ENST00000686079.1:c.56-13309_56-13308insC | ENSP00000509599.1:n.56-13309_56-13308insC... | |
| ENST00000686677.1:n.194-13309_194-13308insC | ||
| ENST00000687210.1:c.56-13309_56-13308insC | ENSP00000509480.1:n.56-13309_56-13308insC... | |
| ENST00000687256.1:c.56-13309_56-13308insC | ENSP00000508741.1:n.56-13309_56-13308insC... | |
| ENST00000687300.1:c.56-13309_56-13308insC | ENSP00000508415.1:n.56-13309_56-13308insC... | |
| ENST00000688206.1:c.56-13309_56-13308insC | ENSP00000510516.1:n.56-13309_56-13308insC... | |
| ENST00000688417.1:n.206-13309_206-13308insC | ||
| ENST00000688739.1:c.55+86719_55+86720insC | ENSP00000510449.1:n.55+86719_55+86720insC... | |
| ENST00000689128.1:c.56-13309_56-13308insC | ENSP00000509587.1:n.56-13309_56-13308insC... | |
| ENST00000689258.1:c.56-13309_56-13308insC | ENSP00000510475.1:n.56-13309_56-13308insC... | |
| ENST00000689940.1:c.56-13309_56-13308insC | ENSP00000508452.1:n.56-13309_56-13308insC... | |
| ENST00000690806.1:c.56-13309_56-13308insC | ENSP00000509417.1:n.56-13309_56-13308insC... | |
| ENST00000690959.1:n.196-13309_196-13308insC | ||
| ENST00000692068.1:c.56-13309_56-13308insC | ENSP00000510763.1:n.56-13309_56-13308insC... | |
| ENST00000692716.1:c.56-13309_56-13308insC | ENSP00000509545.1:n.56-13309_56-13308insC... | |
| ENST00000693022.1:c.56-13309_56-13308insC | ENSP00000508914.1:n.56-13309_56-13308insC... | |
| ENST00000693201.1:c.56-13309_56-13308insC | ENSP00000510346.1:n.56-13309_56-13308insC... | |
| ENST00000693212.1:c.56-13309_56-13308insC | ENSP00000510716.1:n.56-13309_56-13308insC... | |
| ENST00000256190.13:c.56-13309_56-13308insC MANE Select | ENSP00000256190.8:n.56-13309_56-13308insC... | |
| ENST00000675281.1:c.56-13309_56-13308insC | ENSP00000502491.1:n.56-13309_56-13308insC... | |
| ENST00000676324.1:c.56-13309_56-13308insC | ENSP00000502578.1:n.56-13309_56-13308insC... | |
| ENST00000676387.1:c.56-13309_56-13308insC | ENSP00000502779.1:n.56-13309_56-13308insC... | |
| ENST00000256190.12:c.56-13309_56-13308insC | ENSP00000256190.8:n.56-13309_56-13308insC... | |
| NM_030962.3:c.56-13309_56-13308insC , LRG_267t1:c.56-13309_56-13308insC | NP_112224.1:n.56-13309_56-13308insC | |
| XM_005253154.3:c.56-13309_56-13308insC | XP_005253211.1:n.56-13309_56-13308insC | |
| XM_005253155.3:c.56-13309_56-13308insC | XP_005253212.1:n.56-13309_56-13308insC | |
| XM_011520394.1:c.56-13309_56-13308insC | XP_011518696.1:n.56-13309_56-13308insC | |
| XM_011520395.1:c.56-13309_56-13308insC | XP_011518697.1:n.56-13309_56-13308insC | |
| XM_011520396.1:c.56-13309_56-13308insC | XP_011518698.1:n.56-13309_56-13308insC | |
| XM_005253154.5:c.56-13309_56-13308insC | XP_005253211.1:n.56-13309_56-13308insC | |
| XM_005253155.5:c.56-13309_56-13308insC | XP_005253212.1:n.56-13309_56-13308insC | |
| XM_011520394.3:c.56-13309_56-13308insC | XP_011518696.1:n.56-13309_56-13308insC | |
| XM_011520395.3:c.56-13309_56-13308insC | XP_011518697.1:n.56-13309_56-13308insC | |
| XM_011520396.3:c.56-13309_56-13308insC | XP_011518698.1:n.56-13309_56-13308insC | |
| XM_017018374.2:c.56-13309_56-13308insC | XP_016873863.1:n.56-13309_56-13308insC | |
| XM_017018375.2:c.56-13309_56-13308insC | XP_016873864.1:n.56-13309_56-13308insC | |
| XM_017018376.2:c.56-13309_56-13308insC | XP_016873865.1:n.56-13309_56-13308insC | |
| XM_017018377.2:c.56-13309_56-13308insC | XP_016873866.1:n.56-13309_56-13308insC | |
| XR_001747994.2:n.194-13309_194-13308insC | ||
| NM_001386339.1:c.56-13309_56-13308insC | NP_001373268.1:n.56-13309_56-13308insC | |
| NM_001386342.1:c.56-13309_56-13308insC | NP_001373271.1:n.56-13309_56-13308insC | |
| NM_030962.4:c.56-13309_56-13308insC MANE Select | NP_112224.1:n.56-13309_56-13308insC |