ClinVar Variation:
dbSNP:
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149579479_149579496dup , CM000664.2:g.149579479_149579496dup | GRCh38 |
| NC_000002.11:g.150435993_150436010dup , CM000664.1:g.150435993_150436010dup | GRCh37 |
| NC_000002.10:g.150144239_150144256dup | NCBI36 |
| NG_009189.1:g.13321_13338dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.307_324dup MANE Select | ENSP00000301920.5:p.Ser108_Ser109insLeuAlaGluProLeuSer | |
| ENST00000303319.9:c.307_324dup | ENSP00000301920.5:p.Ser108_Ser109insLeuAlaGluProLeuSer | |
| ENST00000422782.2:c.307_324dup | ENSP00000408331.2:p.Ser108_Ser109insLeuAlaGluProLeuSer | |
| ENST00000428879.5:c.307_324dup | ENSP00000389060.1:p.Ser108_Ser109insLeuAlaGluProLeuSer | |
| NM_015702.2:c.307_324dup | NP_056517.1:p.Ser108_Ser109insLeuAlaGluProLeuSer | |
| NM_015702.3:c.307_324dup MANE Select | NP_056517.1:p.Ser108_Ser109insLeuAlaGluProLeuSer |