Linked Data
dbSNP Id:
rs1323107693
gnomAD v3:
17-41584046-T-TCTCA
gnomAD v4:
17-41584046-T-TCTCA
MyVariant Identifiers:
chr17:g.39740298_39740299insCTCA (hg19)
chr17:g.41584046_41584047insCTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584047_41584050dup , CM000679.2:g.41584047_41584050dup | GRCh38 |
| NC_000017.10:g.39740299_39740302dup , CM000679.1:g.39740299_39740302dup | GRCh37 |
| NC_000017.9:g.36993825_36993828dup | NCBI36 |
| NG_008624.1:g.7846_7849dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-129_766-126dup MANE Select | ENSP00000167586.6:n.766-129_766-126dup | |
| ENST00000167586.6:c.766-129_766-126dup | ENSP00000167586.6:n.766-129_766-126dup | |
| ENST00000476662.1:n.216-129_216-126dup | ||
| NM_000526.4:c.766-129_766-126dup | NP_000517.2:n.766-129_766-126dup | |
| NM_000526.5:c.766-129_766-126dup MANE Select | NP_000517.3:n.766-129_766-126dup |