Linked Data
dbSNP Id:
rs1196795353
gnomAD v2:
13-28498660-A-AGGACTGCGCC
gnomAD v4:
13-27924523-A-AGGACTGCGCC
MyVariant Identifiers:
chr13:g.28498660_28498661insGGACTGCGCC (hg19)
chr13:g.27924523_27924524insGGACTGCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924525_27924534dup , CM000675.2:g.27924525_27924534dup | GRCh38 |
| NC_000013.10:g.28498662_28498671dup , CM000675.1:g.28498662_28498671dup | GRCh37 |
| NC_000013.9:g.27396662_27396671dup | NCBI36 |
| NG_008183.1:g.9495_9504dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.676_685dup MANE Select | ENSP00000370421.4:p.Val229GlyfsTer? | |
| ENST00000381033.4:c.676_685dup | ENSP00000370421.4:p.Val229GlyfsTer? | |
| NM_000209.3:c.676_685dup | NP_000200.1:p.Val229GlyfsTer? | |
| NM_000209.4:c.676_685dup MANE Select | NP_000200.1:p.Val229GlyfsTer? |