MyVariant.info:
GRCh38
chr7:g.92503170dupA
GRCh38
chr7:g.92503169_92503170insA
GRCh37
chr7:g.92132484dup
GRCh37
chr7:g.92132484dupA
GRCh37
chr7:g.92132483_92132484insA
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00096233 (NFE)
Genomes Max Group AF
0.00074236 (NFE)
Exomes Max Group AF
0.00096545 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92503172dup , CM000669.2:g.92503172dup | GRCh38 |
| NC_000007.13:g.92132486dup , CM000669.1:g.92132486dup | GRCh37 |
| NC_000007.12:g.91970422dup | NCBI36 |
| NG_008341.1:g.30362dup | |
| NG_008341.2:g.30362dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2097dup MANE Select | ENSP00000248633.4:p.Ile700TyrfsTer? | |
| ENST00000248633.8:c.2097dup | ENSP00000248633.4:p.Ile700TyrfsTer? | |
| ENST00000428214.5:c.1926dup | ENSP00000394413.1:p.Ile643TyrfsTer? | |
| ENST00000438045.5:c.1131dup | ENSP00000410438.1:p.Ile378TyrfsTer? | |
| ENST00000484913.5:n.2136dup | ||
| ENST00000496420.5:n.1773dup | ||
| NM_000466.2:c.2097dup | NP_000457.1:p.Ile700TyrfsTer? | |
| NM_001282677.1:c.1926dup | NP_001269606.1:p.Ile643TyrfsTer? | |
| NM_001282678.1:c.1473dup | NP_001269607.1:p.Ile492TyrfsTer? | |
| XM_005250433.3:c.348dup | XP_005250490.1:p.Ile117TyrfsTer? | |
| XR_242246.3:n.2193dup | ||
| XM_017012319.2:c.348dup | XP_016867808.1:p.Ile117TyrfsTer? | |
| XR_001744808.2:n.1124dup | ||
| XR_242246.5:n.2144dup | ||
| NM_000466.3:c.2097dup MANE Select | NP_000457.1:p.Ile700TyrfsTer? | |
| NM_001282677.2:c.1926dup | NP_001269606.1:p.Ile643TyrfsTer? | |
| NM_001282678.2:c.1473dup | NP_001269607.1:p.Ile492TyrfsTer? |