Linked Data
dbSNP Id:
rs746654281
ExAC:
7:92148364 AC / A
gnomAD v2:
7-92148364-AC-A
gnomAD v4:
7-92519050-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519052del , CM000669.2:g.92519052del | GRCh38 |
| NC_000007.13:g.92148366del , CM000669.1:g.92148366del | GRCh37 |
| NC_000007.12:g.91986302del | NCBI36 |
| NG_008341.1:g.14481del | |
| NG_008341.2:g.14481del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.301del MANE Select | ENSP00000248633.4:p.Val101TyrfsTer? | |
| ENST00000248633.8:c.301del | ENSP00000248633.4:p.Val101TyrfsTer? | |
| ENST00000428214.5:c.301del | ENSP00000394413.1:p.Val101TyrfsTer? | |
| ENST00000438045.5:c.273+3051del | ENSP00000410438.1:n.273+3051del | |
| ENST00000484913.5:n.305del | ||
| NM_000466.2:c.301del | NP_000457.1:p.Val101TyrfsTer? | |
| NM_001282677.1:c.301del | NP_001269606.1:p.Val101TyrfsTer? | |
| NM_001282678.1:c.-359del | NP_001269607.1:n.-359del | |
| XR_242246.3:n.397del | ||
| XR_242246.5:n.348del | ||
| NM_000466.3:c.301del MANE Select | NP_000457.1:p.Val101TyrfsTer? | |
| NM_001282677.2:c.301del | NP_001269606.1:p.Val101TyrfsTer? | |
| NM_001282678.2:c.-359del | NP_001269607.1:n.-359del |