Linked Data
dbSNP Id:
rs778790424
gnomAD v2:
19-18266937-T-TGGCCC
gnomAD v4:
19-18156127-T-TGGCCC
MyVariant Identifiers:
chr19:g.18266942_18266943insGGCCC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156138_18156142dup , CM000681.2:g.18156138_18156142dup | GRCh38 |
| NC_000019.9:g.18266948_18266952dup , CM000681.1:g.18266948_18266952dup | GRCh37 |
| NC_000019.8:g.18127948_18127952dup | NCBI36 |
| NG_033010.1:g.7961_7965dup | |
| NG_033010.2:g.7961_7965dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.259_263dup MANE Select | ENSP00000222254.6:p.Arg89AlafsTer? | |
| ENST00000617130.5:c.259_263dup | ENSP00000477864.2:p.Arg89AlafsTer? | |
| ENST00000617642.2:c.259_263dup | ENSP00000484714.2:p.Arg89AlafsTer? | |
| ENST00000222254.12:c.259_263dup | ENSP00000222254.6:p.Arg89AlafsTer? | |
| ENST00000426902.5:c.259_263dup | ENSP00000395636.1:p.Arg89AlafsTer? | |
| ENST00000593731.1:c.259_263dup | ENSP00000471914.1:p.Arg89AlafsTer? | |
| ENST00000617130.4:c.259_263dup | ENSP00000477864.1:p.Arg89AlafsTer? | |
| ENST00000617642.1:c.259_263dup | ENSP00000484714.1:p.Arg89AlafsTer? | |
| NM_005027.3:c.259_263dup | NP_005018.1:p.Arg89AlafsTer? | |
| NR_073517.1:n.799_803dup | ||
| NM_005027.4:c.259_263dup MANE Select | NP_005018.2:p.Arg89AlafsTer? | |
| NR_073517.2:n.814_818dup | ||
| NR_162071.1:n.814_818dup |