Linked Data
dbSNP Id:
rs2092905649
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536283_42536294dup , CM000679.2:g.42536283_42536294dup | GRCh38 |
| NC_000017.10:g.40688301_40688312dup , CM000679.1:g.40688301_40688312dup | GRCh37 |
| NC_000017.9:g.37941827_37941838dup | NCBI36 |
| NG_011552.1:g.5351_5362dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.11_22dup MANE Select | ENSP00000225927.1:p.Ala7_Ala8insValAlaValAla | |
| ENST00000225927.6:c.11_22dup | ENSP00000225927.1:p.Ala7_Ala8insValAlaValAla | |
| NM_000263.3:c.11_22dup | NP_000254.2:p.Ala7_Ala8insValAlaValAla | |
| XM_024450771.1:c.11_22dup | XP_024306539.1:p.Ala7_Ala8insValAlaValAla | |
| NM_000263.4:c.11_22dup MANE Select | NP_000254.2:p.Ala7_Ala8insValAlaValAla |