Linked Data
dbSNP Id:
rs1037031847
gnomAD v2:
17-39740777-G-GGAGC
gnomAD v3:
17-41584525-G-GGAGC
gnomAD v4:
17-41584525-G-GGAGC
MyVariant Identifiers:
chr17:g.39740777_39740778insGAGC (hg19)
chr17:g.41584525_41584526insGAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584526_41584529dup , CM000679.2:g.41584526_41584529dup | GRCh38 |
| NC_000017.10:g.39740778_39740781dup , CM000679.1:g.39740778_39740781dup | GRCh37 |
| NC_000017.9:g.36994304_36994307dup | NCBI36 |
| NG_008624.1:g.7367_7370dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.609-116_609-113dup MANE Select | ENSP00000167586.6:n.609-116_609-113dup | |
| ENST00000167586.6:c.609-116_609-113dup | ENSP00000167586.6:n.609-116_609-113dup | |
| NM_000526.4:c.609-116_609-113dup | NP_000517.2:n.609-116_609-113dup | |
| NM_000526.5:c.609-116_609-113dup MANE Select | NP_000517.3:n.609-116_609-113dup |