Linked Data
dbSNP Id:
rs1554961267
gnomAD v2:
11-43728274-T-TTGG
gnomAD v3:
11-43706724-T-TTGG
gnomAD v4:
11-43706724-T-TTGG
MyVariant Identifiers:
chr11:g.43728274_43728275insTGG (hg19)
chr11:g.43706724_43706725insTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.43706724_43706725insTGG , CM000673.2:g.43706724_43706725insTGG | GRCh38 |
| NC_000011.9:g.43728274_43728275insTGG , CM000673.1:g.43728274_43728275insTGG | GRCh37 |
| NC_000011.8:g.43684850_43684851insTGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278353.10:c.160+25737_160+25738insTGG MANE Select | ENSP00000278353.4:n.160+25737_160+25738insTGG | |
| ENST00000527433.6:c.123+25920_123+25921insTGG | ENSP00000490749.1:n.123+25920_123+25921insTGG | |
| ENST00000636007.1:c.160+25737_160+25738insTGG | ENSP00000490822.1:n.160+25737_160+25738insTGG | |
| ENST00000636722.1:c.*20+25541_*20+25542insTGG | ENSP00000490003.1:n.*20+25541_*20+25542insTGG | |
| ENST00000637401.1:c.160+25737_160+25738insTGG | ENSP00000490421.1:n.160+25737_160+25738insTGG | |
| ENST00000638034.1:c.64+25367_64+25368insTGG | ENSP00000490701.1:n.64+25367_64+25368insTGG | |
| ENST00000278353.8:c.160+25737_160+25738insTGG | ENSP00000278353.4:n.160+25737_160+25738insTGG | |
| ENST00000395700.4:c.160+25737_160+25738insTGG | ENSP00000379052.4:n.160+25737_160+25738insTGG | |
| ENST00000527433.5:n.125+25920_125+25921insTGG | ||
| ENST00000529261.5:n.377+33585_377+33586insTGG | ||
| ENST00000531185.5:c.160+25737_160+25738insTGG | ENSP00000436582.1:n.160+25737_160+25738insTGG | |
| ENST00000532864.5:n.282-44187_282-44186insTGG | ||
| NM_016142.2:c.160+25737_160+25738insTGG | NP_057226.1:n.160+25737_160+25738insTGG | |
| XM_011520156.1:c.-63+25541_-63+25542insTGG | XP_011518458.1:n.-63+25541_-63+25542insTGG | |
| XM_017017881.1:c.64+25367_64+25368insTGG | XP_016873370.1:n.64+25367_64+25368insTGG | |
| XM_024448571.1:c.-62-44187_-62-44186insTGG | XP_024304339.1:n.-62-44187_-62-44186insTGG | |
| XM_024448572.1:c.-62-44187_-62-44186insTGG | XP_024304340.1:n.-62-44187_-62-44186insTGG | |
| XM_024448573.1:c.-62-44187_-62-44186insTGG | XP_024304341.1:n.-62-44187_-62-44186insTGG | |
| NM_016142.3:c.160+25737_160+25738insTGG MANE Select | NP_057226.1:n.160+25737_160+25738insTGG |