Linked Data
gnomAD v2:
17-27822733-GGAA-G
gnomAD v4:
17-29495715-GGAA-G
MyVariant Identifiers:
chr17:g.27822734_27822736del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29495724_29495726del , CM000679.2:g.29495724_29495726del | GRCh38 |
| NC_000017.10:g.27822742_27822744del , CM000679.1:g.27822742_27822744del | GRCh37 |
| NC_000017.9:g.24846868_24846870del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.996_998del MANE Select | ENSP00000261716.3:p.Glu333del | |
| ENST00000261716.7:c.996_998del | ENSP00000261716.3:p.Glu333del | |
| ENST00000536202.1:c.996_998del | ENSP00000438819.1:p.Glu333del | |
| ENST00000577583.1:n.844_846del | ||
| NM_020791.2:c.996_998del | NP_065842.1:p.Glu333del | |
| NM_025142.1:c.996_998del | NP_079418.1:p.Glu333del | |
| XM_011525060.1:c.996_998del | XP_011523362.1:p.Glu333del | |
| XM_011525060.2:c.996_998del | XP_011523362.1:p.Glu333del | |
| NM_020791.4:c.996_998del MANE Select | NP_065842.1:p.Glu333del |