Linked Data
gnomAD v4:
13-27924495-G-GGGGGTGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924501_27924508dup , CM000675.2:g.27924501_27924508dup | GRCh38 |
| NC_000013.10:g.28498638_28498645dup , CM000675.1:g.28498638_28498645dup | GRCh37 |
| NC_000013.9:g.27396638_27396645dup | NCBI36 |
| NG_008183.1:g.9471_9478dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.652_659dup MANE Select | ENSP00000370421.4:p.Glu222GlyfsTer11 | |
| ENST00000381033.4:c.652_659dup | ENSP00000370421.4:p.Glu222GlyfsTer11 | |
| NM_000209.3:c.652_659dup | NP_000200.1:p.Glu222GlyfsTer11 | |
| NM_000209.4:c.652_659dup MANE Select | NP_000200.1:p.Glu222GlyfsTer11 |