Linked Data
dbSNP Id:
rs747829193
ExAC:
15:31362355 T / TCCCC
gnomAD v2:
15-31362355-T-TCCCC
MyVariant Identifiers:
chr15:g.31362355_31362356insCCCC (hg19)
chr15:g.31070152_31070153insCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31070154_31070155insCCCC , CM000677.2:g.31070154_31070155insCCCC | GRCh38 |
| NC_000015.9:g.31362357_31362358insCCCC , CM000677.1:g.31362357_31362358insCCCC | GRCh37 |
| NC_000015.8:g.29149649_29149650insCCCC | NCBI36 |
| NG_016453.1:g.36569_36570insGGGG | |
| NG_016453.2:g.96121_96122insGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711434.1:c.91_92insGGGG | ENSP00000518752.1:p.Glu31GlyfsTer11 | |
| ENST00000397795.7:c.91_92insGGGG | ENSP00000380897.2:p.Glu31GlyfsTer11 | |
| ENST00000558445.6:c.208_209insGGGG | ENSP00000452946.2:p.Glu70GlyfsTer11 | |
| ENST00000559177.6:c.208_209insGGGG | ENSP00000453477.2:p.Glu70GlyfsTer11 | |
| ENST00000559179.2:c.91_92insGGGG | ENSP00000453851.1:p.Glu31GlyfsTer11 | |
| ENST00000256552.11:c.157_158insGGGG MANE Select | ENSP00000256552.7:p.Glu53GlyfsTer11 | |
| ENST00000256552.10:c.157_158insGGGG | ENSP00000256552.6:p.Glu53GlyfsTer11 | |
| ENST00000397795.6:c.91_92insGGGG | ENSP00000380897.2:p.Glu31GlyfsTer11 | |
| ENST00000542188.5:c.208_209insGGGG | ENSP00000437849.1:p.Glu70GlyfsTer11 | |
| ENST00000558445.5:c.91_92insGGGG | ENSP00000452946.1:p.Glu31GlyfsTer11 | |
| ENST00000559177.5:c.91_92insGGGG | ENSP00000453477.1:p.Glu31GlyfsTer11 | |
| ENST00000559179.1:c.91_92insGGGG | ENSP00000453851.1:p.Glu31GlyfsTer11 | |
| ENST00000560658.5:c.91_92insGGGG | ENSP00000454077.1:p.Glu31GlyfsTer11 | |
| NM_001252020.1:c.208_209insGGGG | NP_001238949.1:p.Glu70GlyfsTer11 | |
| NM_001252024.1:c.157_158insGGGG | NP_001238953.1:p.Glu53GlyfsTer11 | |
| NM_001252030.1:c.91_92insGGGG | NP_001238959.1:p.Glu31GlyfsTer11 | |
| NM_002420.5:c.91_92insGGGG | NP_002411.3:p.Glu31GlyfsTer11 | |
| NM_001252024.2:c.157_158insGGGG MANE Select | NP_001238953.1:p.Glu53GlyfsTer11 | |
| NM_001252030.2:c.91_92insGGGG | NP_001238959.1:p.Glu31GlyfsTer11 | |
| NM_002420.6:c.91_92insGGGG | NP_002411.3:p.Glu31GlyfsTer11 | |
| NM_001252020.2:c.208_209insGGGG | NP_001238949.1:p.Glu70GlyfsTer11 |