MyVariant.info:
GRCh38
chr9:g.6592181dupC
GRCh38
chr9:g.6592180_6592181insC
GRCh37
chr9:g.6592181dupC
GRCh37
chr9:g.6592180_6592181insC
gnomAD v4:
Joint Max Group AF
0.00000293 (NFE)
Exomes Max Group AF
0.00000311 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6592182dup , CM000671.2:g.6592182dup | GRCh38 |
| NC_000009.11:g.6592182dup , CM000671.1:g.6592182dup | GRCh37 |
| NC_000009.10:g.6582182dup | NCBI36 |
| NG_016397.1:g.58512dup , LRG_643:g.58512dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1444dup MANE Select | ENSP00000370737.4:p.Asp482GlyfsTer10 | |
| ENST00000639364.1:n.1144dup | ||
| ENST00000639443.1:n.1012dup | ||
| ENST00000639954.1:n.1152dup | ||
| ENST00000640592.1:n.1327dup | ||
| ENST00000640703.1:n.287dup | ||
| ENST00000321612.6:c.1444dup | ENSP00000370737.3:p.Asp482GlyfsTer10 | |
| ENST00000463305.1:n.528dup | ||
| NM_000170.2:c.1444dup , LRG_643t1:c.1444dup | NP_000161.2:p.Asp482GlyfsTer10 | |
| NM_000170.3:c.1444dup MANE Select | NP_000161.2:p.Asp482GlyfsTer10 |