Linked Data
dbSNP Id:
rs1326089121
gnomAD v2:
17-40336514-C-CAGCAGCAGT
gnomAD v3:
17-42184496-C-CAGCAGCAGT
gnomAD v4:
17-42184496-C-CAGCAGCAGT
MyVariant Identifiers:
chr17:g.40336514_40336515insAGCAGCAGT (hg19)
chr17:g.42184496_42184497insAGCAGCAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184500_42184508dup , CM000679.2:g.42184500_42184508dup | GRCh38 |
| NC_000017.10:g.40336518_40336526dup , CM000679.1:g.40336518_40336526dup | GRCh37 |
| NC_000017.9:g.37590044_37590052dup | NCBI36 |
| NG_011448.1:g.5948_5956dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.45_53dup MANE Select | ENSP00000293330.1:p.Leu18_Leu19insLeuLeuLeu | |
| NM_001524.1:c.45_53dup MANE Select | NP_001515.1:p.Leu18_Leu19insLeuLeuLeu |