Linked Data
dbSNP Id:
rs149760469
MyVariant Identifiers:
chr19:g.11218983_11218984insGTT (hg19)
chr19:g.11108307_11108308insGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11108307_11108308insGTT , CM000681.2:g.11108307_11108308insGTT | GRCh38 |
| NC_000019.9:g.11218983_11218984insGTT , CM000681.1:g.11218983_11218984insGTT | GRCh37 |
| NC_000019.8:g.11079983_11079984insGTT | NCBI36 |
| NG_009060.1:g.23927_23928insGTT , LRG_274:g.23927_23928insGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1198+793_1198+794insGTT | ENSP00000252444.6:n.1198+793_1198+794insGTT | |
| ENST00000559340.2:c.940+793_940+794insGTT | ENSP00000453696.2:n.940+793_940+794insGTT | |
| ENST00000560467.2:c.940+793_940+794insGTT | ENSP00000453513.2:n.940+793_940+794insGTT | |
| ENST00000558518.6:c.940+793_940+794insGTT MANE Select | ENSP00000454071.1:n.940+793_940+794insGTT | |
| ENST00000252444.9:c.1194+793_1194+794insGTT | ||
| ENST00000455727.6:c.436+793_436+794insGTT | ENSP00000397829.2:n.436+793_436+794insGTT | |
| ENST00000535915.5:c.817+793_817+794insGTT | ENSP00000440520.1:n.817+793_817+794insGTT | |
| ENST00000545707.5:c.559+793_559+794insGTT | ENSP00000437639.1:n.559+793_559+794insGTT | |
| ENST00000557933.5:c.940+793_940+794insGTT | ENSP00000453557.1:n.940+793_940+794insGTT | |
| ENST00000558013.5:c.940+793_940+794insGTT | ENSP00000453346.1:n.940+793_940+794insGTT | |
| ENST00000558518.5:c.940+793_940+794insGTT | ENSP00000454071.1:n.940+793_940+794insGTT | |
| ENST00000560467.1:c.540+793_540+794insGTT | ||
| NM_000527.4:c.940+793_940+794insGTT , LRG_274t1:c.940+793_940+794insGTT | NP_000518.1:n.940+793_940+794insGTT | |
| NM_001195798.1:c.940+793_940+794insGTT | NP_001182727.1:n.940+793_940+794insGTT | |
| NM_001195799.1:c.817+793_817+794insGTT | NP_001182728.1:n.817+793_817+794insGTT | |
| NM_001195800.1:c.436+793_436+794insGTT | NP_001182729.1:n.436+793_436+794insGTT | |
| NM_001195803.1:c.559+793_559+794insGTT | NP_001182732.1:n.559+793_559+794insGTT | |
| XM_011528010.1:c.940+793_940+794insGTT | XP_011526312.1:n.940+793_940+794insGTT | |
| XM_011528011.1:c.559+793_559+794insGTT | XP_011526313.1:n.559+793_559+794insGTT | |
| XR_244074.2:n.1090+793_1090+794insGTT | ||
| XM_011528010.2:c.940+793_940+794insGTT | XP_011526312.1:n.940+793_940+794insGTT | |
| XR_001753685.2:n.1057+793_1057+794insGTT | ||
| XR_001753686.2:n.1057+793_1057+794insGTT | ||
| NM_000527.5:c.940+793_940+794insGTT MANE Select | NP_000518.1:n.940+793_940+794insGTT | |
| NM_001195798.2:c.940+793_940+794insGTT | NP_001182727.1:n.940+793_940+794insGTT | |
| NM_001195799.2:c.817+793_817+794insGTT | NP_001182728.1:n.817+793_817+794insGTT | |
| NM_001195800.2:c.436+793_436+794insGTT | NP_001182729.1:n.436+793_436+794insGTT | |
| NM_001195803.2:c.559+793_559+794insGTT | NP_001182732.1:n.559+793_559+794insGTT |