Linked Data
dbSNP Id:
rs1792861580
gnomAD v3:
7-92517684-CTGCATATTTTTG-C
gnomAD v4:
7-92517684-CTGCATATTTTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92517685_92517696del , CM000669.2:g.92517685_92517696del | GRCh38 |
| NC_000007.13:g.92146999_92147010del , CM000669.1:g.92146999_92147010del | GRCh37 |
| NC_000007.12:g.91984935_91984946del | NCBI36 |
| NG_008341.1:g.15836_15847del | |
| NG_008341.2:g.15836_15847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.819_830del MANE Select | ENSP00000248633.4:p.Phe273_Gln277delinsLeu | |
| ENST00000248633.8:c.819_830del | ENSP00000248633.4:p.Phe273_Gln277delinsLeu | |
| ENST00000428214.5:c.819_830del | ENSP00000394413.1:p.Phe273_Gln277delinsLeu | |
| ENST00000438045.5:c.274-3729_274-3718del | ENSP00000410438.1:n.274-3729_274-3718del | |
| ENST00000484913.5:n.858_869del | ||
| NM_000466.2:c.819_830del | NP_000457.1:p.Phe273_Gln277delinsLeu | |
| NM_001282677.1:c.819_830del | NP_001269606.1:p.Phe273_Gln277delinsLeu | |
| NM_001282678.1:c.195_206del | NP_001269607.1:p.Phe65_Gln69delinsLeu | |
| XR_242246.3:n.915_926del | ||
| XR_242246.5:n.866_877del | ||
| NM_000466.3:c.819_830del MANE Select | NP_000457.1:p.Phe273_Gln277delinsLeu | |
| NM_001282677.2:c.819_830del | NP_001269606.1:p.Phe273_Gln277delinsLeu | |
| NM_001282678.2:c.195_206del | NP_001269607.1:p.Phe65_Gln69delinsLeu |