MyVariant.info:
GRCh38
chr11:g.5226675_5226676insT
GRCh38
chr11:g.5226674_5226675insT
GRCh37
chr11:g.5247905_5247906insT
GRCh37
chr11:g.5247904_5247905insT
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226675dup , CM000673.2:g.5226675dup | GRCh38 |
| NC_000011.9:g.5247905dup , CM000673.1:g.5247905dup | GRCh37 |
| NC_000011.8:g.5204481dup | NCBI36 |
| NG_000007.3:g.70941dup | |
| NG_059281.1:g.5397dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.217dup | ENSP00000494175.1:p.Ser73LysfsTer2 | |
| ENST00000335295.4:c.217dup MANE Select | ENSP00000333994.3:p.Ser73LysfsTer2 | |
| ENST00000380315.2:c.217dup | ENSP00000369671.2:p.Ser73LysfsTer2 | |
| ENST00000475226.1:n.149dup | ||
| ENST00000485743.1:n.268dup | ||
| ENST00000633227.1:c.*33dup | ENSP00000488004.1:n.*33dup | |
| NM_000518.4:c.217dup | NP_000509.1:p.Ser73LysfsTer2 | |
| NM_000518.5:c.217dup MANE Select | NP_000509.1:p.Ser73LysfsTer2 |