Linked Data
dbSNP Id:
rs1470753928
gnomAD v2:
11-110128908-C-CTACTTA
gnomAD v4:
11-110258183-C-CTACTTA
MyVariant Identifiers:
chr11:g.110128908_110128909insTACTTA (hg19)
chr11:g.110258183_110258184insTACTTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110258183_110258184insTACTTA , CM000673.2:g.110258183_110258184insTACTTA | GRCh38 |
| NC_000011.9:g.110128908_110128909insTACTTA , CM000673.1:g.110128908_110128909insTACTTA | GRCh37 |
| NC_000011.8:g.109634118_109634119insTACTTA | NCBI36 |
| NG_023044.1:g.43529_43530insTAAGTA | |
| NG_023044.2:g.43529_43530insTAAGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642511.1:c.431_432insTAAGTA | ||
| ENST00000645495.2:c.473_474insTAAGTA MANE Select | ENSP00000496503.2:p.Leu158PhefsTer3 | |
| ENST00000645527.1:c.473_474insTAAGTA | ENSP00000496121.1:p.Leu158PhefsTer3 | |
| ENST00000646663.1:c.473_474insTAAGTA | ENSP00000494693.1:p.Leu158PhefsTer3 | |
| ENST00000647231.1:c.473_474insTAAGTA | ENSP00000496414.1:p.Leu158PhefsTer3 | |
| ENST00000343115.8:c.473_474insTAAGTA | ENSP00000342830.4:p.Leu158PhefsTer3 | |
| ENST00000405097.5:c.473_474insTAAGTA | ENSP00000384136.1:p.Leu158PhefsTer3 | |
| ENST00000528498.5:c.473_474insTAAGTA | ENSP00000432112.1:p.Leu158PhefsTer3 | |
| ENST00000528900.5:c.-82-10351_-82-10350insTAAGTA | ENSP00000433580.1:n.-82-10351_-82-10350insTAAGTA | |
| ENST00000529774.1:n.25_26insTAAGTA | ||
| ENST00000530131.5:c.102_103insTAAGTA | ||
| ENST00000530301.5:c.377_378insTAAGTA | ENSP00000436277.1:p.Leu126PhefsTer3 | |
| ENST00000530749.5:c.473_474insTAAGTA | ENSP00000437301.1:p.Leu158PhefsTer3 | |
| ENST00000532118.5:c.440_441insTAAGTA | ENSP00000437140.1:p.Leu147PhefsTer3 | |
| ENST00000534683.1:c.-71_-70insTAAGTA | ENSP00000431560.1:n.-71_-70insTAAGTA | |
| ENST00000544551.5:c.65_66insTAAGTA | ENSP00000445826.1:p.Leu22PhefsTer3 | |
| NM_001260492.1:c.473_474insTAAGTA | NP_001247421.1:p.Leu158PhefsTer3 | |
| NM_001260493.1:c.473_474insTAAGTA | NP_001247422.1:p.Leu158PhefsTer3 | |
| NM_001260494.1:c.65_66insTAAGTA | NP_001247423.1:p.Leu22PhefsTer3 | |
| NM_001260495.1:c.-82-10351_-82-10350insTAAGTA | NP_001247424.1:n.-82-10351_-82-10350insTAAGTA | |
| NM_001260496.1:c.377_378insTAAGTA | NP_001247425.1:p.Leu126PhefsTer3 | |
| NM_002906.3:c.473_474insTAAGTA | NP_002897.1:p.Leu158PhefsTer3 | |
| NM_001260492.2:c.473_474insTAAGTA | NP_001247421.1:p.Leu158PhefsTer3 | |
| NM_002906.4:c.473_474insTAAGTA MANE Select | NP_002897.1:p.Leu158PhefsTer3 | |
| NM_001260493.2:c.473_474insTAAGTA | NP_001247422.1:p.Leu158PhefsTer3 | |
| NM_001260494.2:c.65_66insTAAGTA | NP_001247423.1:p.Leu22PhefsTer3 | |
| NM_001260495.2:c.-82-10351_-82-10350insTAAGTA | NP_001247424.1:n.-82-10351_-82-10350insTAAGTA | |
| NM_001260496.2:c.377_378insTAAGTA | NP_001247425.1:p.Leu126PhefsTer3 |