ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504770_92504771del , CM000669.2:g.92504770_92504771del | GRCh38 |
| NC_000007.13:g.92134084_92134085del , CM000669.1:g.92134084_92134085del | GRCh37 |
| NC_000007.12:g.91972020_91972021del | NCBI36 |
| NG_008341.1:g.28763_28764del | |
| NG_008341.2:g.28763_28764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2034_2035del MANE Select | ENSP00000248633.4:p.His678GlnfsTer3 | |
| ENST00000248633.8:c.2034_2035del | ENSP00000248633.4:p.His678GlnfsTer3 | |
| ENST00000428214.5:c.1900+1479_1900+1480del | ENSP00000394413.1:n.1900+1479_1900+1480del | |
| ENST00000438045.5:c.1068_1069del | ENSP00000410438.1:p.His356GlnfsTer3 | |
| ENST00000484913.5:n.2073_2074del | ||
| ENST00000496420.5:n.1710_1711del | ||
| NM_000466.2:c.2034_2035del | NP_000457.1:p.His678GlnfsTer3 | |
| NM_001282677.1:c.1900+1479_1900+1480del | NP_001269606.1:n.1900+1479_1900+1480del | |
| NM_001282678.1:c.1410_1411del | NP_001269607.1:p.His470GlnfsTer3 | |
| XM_005250433.3:c.285_286del | XP_005250490.1:p.His95GlnfsTer3 | |
| XR_242246.3:n.2130_2131del | ||
| XM_017012319.2:c.285_286del | XP_016867808.1:p.His95GlnfsTer3 | |
| XR_001744808.2:n.1061_1062del | ||
| XR_242246.5:n.2081_2082del | ||
| NM_000466.3:c.2034_2035del MANE Select | NP_000457.1:p.His678GlnfsTer3 | |
| NM_001282677.2:c.1900+1479_1900+1480del | NP_001269606.1:n.1900+1479_1900+1480del | |
| NM_001282678.2:c.1410_1411del | NP_001269607.1:p.His470GlnfsTer3 |