Linked Data
dbSNP Id:
rs3840858
gnomAD v2:
17-74582336-C-CCCGG
gnomAD v3:
17-76586254-C-CCCGG
gnomAD v4:
17-76586254-C-CCCGG
MyVariant Identifiers:
chr17:g.74582336_74582337insCCGG (hg19)
chr17:g.76586254_76586255insCCGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.76586256_76586259dup , CM000679.2:g.76586256_76586259dup | GRCh38 |
| NC_000017.10:g.74582338_74582341dup , CM000679.1:g.74582338_74582341dup | GRCh37 |
| NC_000017.9:g.72093933_72093936dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588005.5:n.88+611_88+614dup |