MyVariant.info:
GRCh38
chr1:g.45507545dupA
GRCh38
chr1:g.45507545_45507546insA
GRCh38
chr1:g.45507544_45507545insA
GRCh37
chr1:g.45973217dup
GRCh37
chr1:g.45973217dupA
GRCh37
chr1:g.45973217_45973218insA
GRCh37
chr1:g.45973216_45973217insA
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00140112 (AMR)
Genomes Max Group AF
0.00169077 (AMR)
Exomes Max Group AF
0.00116923 (AMR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45507545dup , CM000663.2:g.45507545dup | GRCh38 |
| NC_000001.10:g.45973217dup , CM000663.1:g.45973217dup | GRCh37 |
| NC_000001.9:g.45745804dup | NCBI36 |
| NG_013378.1:g.12362dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.271dup MANE Select | ENSP00000383840.4:p.Arg91LysfsTer14 | |
| ENST00000401061.8:c.271dup | ENSP00000383840.4:p.Arg91LysfsTer14 | |
| ENST00000616135.1:c.100dup | ENSP00000478859.1:p.Arg34LysfsTer14 | |
| NM_015506.2:c.271dup | NP_056321.2:p.Arg91LysfsTer14 | |
| XM_005270724.3:c.82-667dup | XP_005270781.1:n.82-667dup | |
| XM_011541204.1:c.100dup | XP_011539506.1:p.Arg34LysfsTer14 | |
| NM_001330540.1:c.100dup | NP_001317469.1:p.Arg34LysfsTer14 | |
| XM_005270724.5:c.82-667dup | XP_005270781.1:n.82-667dup | |
| NM_015506.3:c.271dup MANE Select | NP_056321.2:p.Arg91LysfsTer14 | |
| NM_001330540.2:c.100dup | NP_001317469.1:p.Arg34LysfsTer14 |