Linked Data
dbSNP Id:
rs747438474
ExAC:
1:117690343 GAC / G
gnomAD v2:
1-117690343-GAC-G
gnomAD v4:
1-117147721-GAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.117147727_117147728del , CM000663.2:g.117147727_117147728del | GRCh38 |
| NC_000001.10:g.117690349_117690350del , CM000663.1:g.117690349_117690350del | GRCh37 |
| NC_000001.9:g.117491872_117491873del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369458.8:c.784_785del MANE Select | ENSP00000358470.3:p.Val262LeufsTer? | |
| ENST00000328189.7:c.436_437del | ENSP00000328168.3:p.Val146LeufsTer? | |
| ENST00000359008.8:c.793_794del | ENSP00000351899.4:p.Val265LeufsTer? | |
| ENST00000369458.7:c.784_785del | ENSP00000358470.3:p.Val262LeufsTer? | |
| ENST00000539893.5:c.499_500del | ENSP00000444724.1:p.Val167LeufsTer? | |
| NM_001253849.1:c.499_500del | NP_001240778.1:p.Val167LeufsTer? | |
| NM_001253850.1:c.436_437del | NP_001240779.1:p.Val146LeufsTer? | |
| NM_024626.3:c.784_785del | NP_078902.2:p.Val262LeufsTer? | |
| NR_045603.1:n.979_980del | ||
| NR_045604.1:n.683_684del | ||
| XM_011542143.1:c.835_836del | XP_011540445.1:p.Val279LeufsTer? | |
| XM_011542144.1:c.838_839del | XP_011540446.1:p.Val280LeufsTer? | |
| XM_011542145.1:c.799_800del | XP_011540447.1:p.Val267LeufsTer? | |
| XM_011542143.2:c.934_935del | XP_011540445.2:p.Val312LeufsTer? | |
| XM_017002335.2:c.799_800del | XP_016857824.1:p.Val267LeufsTer? | |
| NM_024626.4:c.784_785del MANE Select | NP_078902.2:p.Val262LeufsTer? | |
| NR_045603.2:n.946_947del | ||
| NR_045604.2:n.650_651del | ||
| NM_001253849.2:c.499_500del | NP_001240778.1:p.Val167LeufsTer? | |
| NM_001253850.2:c.436_437del | NP_001240779.1:p.Val146LeufsTer? |