Linked Data
ClinVar Variation Id:
804928
ClinVar RCV Id:
RCV000992181
dbSNP Id:
rs1566025668
gnomAD v2:
13-28498667-CGCCGTGACCTCCGGCGA-C
gnomAD v4:
13-27924530-CGCCGTGACCTCCGGCGA-C
MyVariant Identifiers:
chr13:g.28498668_28498684del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924532_27924548del , CM000675.2:g.27924532_27924548del | GRCh38 |
| NC_000013.10:g.28498669_28498685del , CM000675.1:g.28498669_28498685del | GRCh37 |
| NC_000013.9:g.27396669_27396685del | NCBI36 |
| NG_008183.1:g.9502_9518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.683_699del MANE Select | ENSP00000370421.4:p.Ala228GlyfsTer? | |
| ENST00000381033.4:c.683_699del | ENSP00000370421.4:p.Ala228GlyfsTer? | |
| NM_000209.3:c.683_699del | NP_000200.1:p.Ala228GlyfsTer? | |
| NM_000209.4:c.683_699del MANE Select | NP_000200.1:p.Ala228GlyfsTer? |