Linked Data
ClinVar Variation Id:
251599
dbSNP Id:
rs879254758
MyVariant Identifiers:
chr19:g.11221406_11221407delinsTG (hg19)
chr19:g.11110730_11110731delinsTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11110730_11110731delinsTG , CM000681.2:g.11110730_11110731delinsTG | GRCh38 |
| NC_000019.9:g.11221406_11221407delinsTG , CM000681.1:g.11221406_11221407delinsTG | GRCh37 |
| NC_000019.8:g.11082406_11082407delinsTG | NCBI36 |
| NG_009060.1:g.26350_26351delinsTG , LRG_274:g.26350_26351delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1277_1278delinsTG | ENSP00000252444.6:p.Cys426Leu | |
| ENST00000559340.2:c.1019_1020delinsTG | ENSP00000453696.2:p.Cys340Leu | |
| ENST00000560467.2:c.941-784_941-783delinsTG | ENSP00000453513.2:n.941-784_941-783delinsTG | |
| ENST00000558518.6:c.1019_1020delinsTG MANE Select | ENSP00000454071.1:p.Cys340Leu | |
| ENST00000252444.9:c.1273_1274delinsTG | ||
| ENST00000455727.6:c.515_516delinsTG | ENSP00000397829.2:p.Cys172Leu | |
| ENST00000535915.5:c.896_897delinsTG | ENSP00000440520.1:p.Cys299Leu | |
| ENST00000545707.5:c.638_639delinsTG | ENSP00000437639.1:p.Cys213Leu | |
| ENST00000557933.5:c.1019_1020delinsTG | ENSP00000453557.1:p.Cys340Leu | |
| ENST00000558013.5:c.1019_1020delinsTG | ENSP00000453346.1:p.Cys340Leu | |
| ENST00000558518.5:c.1019_1020delinsTG | ENSP00000454071.1:p.Cys340Leu | |
| ENST00000560173.1:n.18_19delinsTG | ||
| ENST00000560467.1:c.541-784_541-783delinsTG | ||
| NM_000527.4:c.1019_1020delinsTG , LRG_274t1:c.1019_1020delinsTG | NP_000518.1:p.Cys340Leu | |
| NM_001195798.1:c.1019_1020delinsTG | NP_001182727.1:p.Cys340Leu | |
| NM_001195799.1:c.896_897delinsTG | NP_001182728.1:p.Cys299Leu | |
| NM_001195800.1:c.515_516delinsTG | NP_001182729.1:p.Cys172Leu | |
| NM_001195803.1:c.638_639delinsTG | NP_001182732.1:p.Cys213Leu | |
| XM_011528010.1:c.1019_1020delinsTG | XP_011526312.1:p.Cys340Leu | |
| XM_011528011.1:c.638_639delinsTG | XP_011526313.1:p.Cys213Leu | |
| XR_244074.2:n.1169_1170delinsTG | ||
| XM_011528010.2:c.1019_1020delinsTG | XP_011526312.1:p.Cys340Leu | |
| XR_001753685.2:n.1136_1137delinsTG | ||
| XR_001753686.2:n.1136_1137delinsTG | ||
| NM_000527.5:c.1019_1020delinsTG MANE Select | NP_000518.1:p.Cys340Leu | |
| NM_001195798.2:c.1019_1020delinsTG | NP_001182727.1:p.Cys340Leu | |
| NM_001195799.2:c.896_897delinsTG | NP_001182728.1:p.Cys299Leu | |
| NM_001195800.2:c.515_516delinsTG | NP_001182729.1:p.Cys172Leu | |
| NM_001195803.2:c.638_639delinsTG | NP_001182732.1:p.Cys213Leu |