Linked Data
dbSNP Id:
rs755853377
ExAC:
2:29294023 GCTCACA / G
gnomAD v2:
2-29294023-GCTCACA-G
gnomAD v4:
2-29071157-GCTCACA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071158_29071163del , CM000664.2:g.29071158_29071163del | GRCh38 |
| NC_000002.11:g.29294024_29294029del , CM000664.1:g.29294024_29294029del | GRCh37 |
| NC_000002.10:g.29147528_29147533del | NCBI36 |
| NG_021427.1:g.8099_8104del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3099_3104del MANE Select | ENSP00000332809.4:p.Val1034_Ser1035del | |
| ENST00000331664.5:c.3099_3104del | ENSP00000332809.4:p.Val1034_Ser1035del | |
| NM_001029883.2:c.3099_3104del | NP_001025054.1:p.Val1034_Ser1035del | |
| XM_011532826.1:c.3099_3104del | XP_011531128.1:p.Val1034_Ser1035del | |
| XR_939901.1:n.185+1991_185+1996del | ||
| XR_939902.1:n.173+2003_173+2008del | ||
| NM_001029883.3:c.3099_3104del MANE Select | NP_001025054.1:p.Val1034_Ser1035del |