Linked Data
dbSNP Id:
rs1374702824
gnomAD v2:
17-40695824-T-TGAGCTGCTGCCGGCACTG
gnomAD v4:
17-42543806-T-TGAGCTGCTGCCGGCACTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543809_42543826dup , CM000679.2:g.42543809_42543826dup | GRCh38 |
| NC_000017.10:g.40695827_40695844dup , CM000679.1:g.40695827_40695844dup | GRCh37 |
| NC_000017.9:g.37949353_37949370dup | NCBI36 |
| NG_011552.1:g.12877_12894dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1803_1820dup MANE Select | ENSP00000225927.1:p.Leu606_Asp607insGluLeuLeuProAlaLeu | |
| ENST00000225927.6:c.1803_1820dup | ENSP00000225927.1:p.Leu606_Asp607insGluLeuLeuProAlaLeu | |
| ENST00000591587.1:c.1141_1158dup | ENSP00000467836.1:n.1141_1158dup | |
| NM_000263.3:c.1803_1820dup | NP_000254.2:p.Leu606_Asp607insGluLeuLeuProAlaLeu | |
| XM_006721920.2:c.972_989dup | XP_006721983.1:p.Leu329_Asp330insGluLeuLeuProAlaLeu | |
| XM_011524840.1:c.804_821dup | XP_011523142.1:p.Leu273_Asp274insGluLeuLeuProAlaLeu | |
| XM_017024687.1:c.972_989dup | XP_016880176.1:p.Leu329_Asp330insGluLeuLeuProAlaLeu | |
| XM_024450771.1:c.1860_1877dup | XP_024306539.1:p.Leu625_Asp626insGluLeuLeuProAlaLeu | |
| XM_024450772.1:c.804_821dup | XP_024306540.1:p.Leu273_Asp274insGluLeuLeuProAlaLeu | |
| NM_000263.4:c.1803_1820dup MANE Select | NP_000254.2:p.Leu606_Asp607insGluLeuLeuProAlaLeu |