MyVariant.info:
GRCh38
chr1:g.40290879dupT
GRCh38
chr1:g.40290871_40290872insT
GRCh38
chr1:g.40290870_40290871insT
GRCh37
chr1:g.40756551dupT
GRCh37
chr1:g.40756543_40756544insT
GRCh37
chr1:g.40756542_40756543insT
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00049463 (NFE)
Genomes Max Group AF
0.00045854 (NFE)
Exomes Max Group AF
0.00048959 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40290879dup , CM000663.2:g.40290879dup | GRCh38 |
| NC_000001.10:g.40756551dup , CM000663.1:g.40756551dup | GRCh37 |
| NC_000001.9:g.40529138dup | NCBI36 |
| NG_008695.1:g.37819dup , LRG_212:g.37819dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372759.4:c.1085dup MANE Select | ENSP00000361845.3:p.Leu362PhefsTer19 | |
| ENST00000674703.1:c.*926dup | ENSP00000501674.1:n.*926dup | |
| ENST00000675754.1:c.*827dup | ENSP00000502555.1:n.*827dup | |
| ENST00000675937.1:c.*330dup | ENSP00000502683.1:n.*330dup | |
| ENST00000372759.3:c.1085dup | ENSP00000361845.3:p.Leu362PhefsTer19 | |
| ENST00000474142.1:n.235dup | ||
| NM_005857.4:c.1085dup | NP_005848.2:p.Leu362PhefsTer19 | |
| XM_011540486.1:c.836dup | XP_011538788.1:p.Leu279PhefsTer19 | |
| XR_001736906.2:n.1472dup | ||
| NM_005857.5:c.1085dup MANE Select | NP_005848.2:p.Leu362PhefsTer19 |