Linked Data
dbSNP Id:
rs1667466904
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071000_29071002del , CM000664.2:g.29071000_29071002del | GRCh38 |
| NC_000002.11:g.29293866_29293868del , CM000664.1:g.29293866_29293868del | GRCh37 |
| NC_000002.10:g.29147370_29147372del | NCBI36 |
| NG_021427.1:g.8262_8264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3262_3264del MANE Select | ENSP00000332809.4:p.Ser1088del | |
| ENST00000331664.5:c.3262_3264del | ENSP00000332809.4:p.Ser1088del | |
| NM_001029883.2:c.3262_3264del | NP_001025054.1:p.Ser1088del | |
| XM_011532826.1:c.3262_3264del | XP_011531128.1:p.Ser1088del | |
| XR_939901.1:n.185+1833_185+1835del | ||
| XR_939902.1:n.173+1845_173+1847del | ||
| NM_001029883.3:c.3262_3264del MANE Select | NP_001025054.1:p.Ser1088del |