Linked Data
ClinVar Variation Id:
371464
dbSNP Id:
rs766192888
ExAC:
17:7125987 G / GGGCC
gnomAD v2:
17-7125987-G-GGGCC
gnomAD v3:
17-7222668-G-GGGCC
gnomAD v4:
17-7222668-G-GGGCC
MyVariant Identifiers:
chr17:g.7125988_7125991dupGGCC (hg19)
chr17:g.7125987_7125988insGGCC (hg19)
chr17:g.7222669_7222672dupGGCC (hg38)
chr17:g.7222668_7222669insGGCC (hg38)
PubMed:
PMID:26385305
ERepo:
CA8337899/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222669_7222672dup , CM000679.2:g.7222669_7222672dup | GRCh38 |
| NC_000017.10:g.7125988_7125991dup , CM000679.1:g.7125988_7125991dup | GRCh37 |
| NC_000017.9:g.7066712_7066715dup | NCBI36 |
| NG_007975.1:g.7836_7839dup | |
| NG_008391.2:g.2379_2382dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.881_884dup MANE Select | ENSP00000349297.5:p.Pro296AlafsTer3 | |
| ENST00000322910.9:c.*836_*839dup | ENSP00000325395.5:n.*836_*839dup | |
| ENST00000350303.9:c.815_818dup | ENSP00000344152.5:p.Pro274AlafsTer3 | |
| ENST00000356839.9:c.881_884dup | ENSP00000349297.5:p.Pro296AlafsTer3 | |
| ENST00000543245.6:c.950_953dup | ENSP00000438689.2:p.Pro319AlafsTer3 | |
| ENST00000578824.5:n.30_33dup | ||
| ENST00000581378.5:c.599_602dup | ||
| ENST00000582379.1:n.265_268dup | ||
| NM_000018.3:c.881_884dup | NP_000009.1:p.Pro296AlafsTer3 | |
| NM_001033859.2:c.815_818dup | NP_001029031.1:p.Pro274AlafsTer3 | |
| NM_001270447.1:c.950_953dup | NP_001257376.1:p.Pro319AlafsTer3 | |
| NM_001270448.1:c.653_656dup | NP_001257377.1:p.Pro220AlafsTer3 | |
| XM_006721516.2:c.881_884dup | XP_006721579.2:p.Pro296AlafsTer3 | |
| XM_011523829.1:c.881_884dup | XP_011522131.1:p.Pro296AlafsTer3 | |
| XM_011523830.1:c.881_884dup | XP_011522132.1:p.Pro296AlafsTer3 | |
| XR_934021.1:n.988_991dup | ||
| XR_934022.1:n.988_991dup | ||
| XR_934023.1:n.988_991dup | ||
| XM_006721516.3:c.881_884dup | XP_006721579.2:p.Pro296AlafsTer3 | |
| XM_011523829.2:c.881_884dup | XP_011522131.1:p.Pro296AlafsTer3 | |
| XM_011523830.2:c.881_884dup | XP_011522132.1:p.Pro296AlafsTer3 | |
| XM_024450741.1:c.881_884dup | XP_024306509.1:p.Pro296AlafsTer3 | |
| XR_934021.2:n.940_943dup | ||
| XR_934022.2:n.940_943dup | ||
| XR_934023.2:n.940_943dup | ||
| NM_000018.4:c.881_884dup MANE Select | NP_000009.1:p.Pro296AlafsTer3 | |
| NM_001033859.3:c.815_818dup | NP_001029031.1:p.Pro274AlafsTer3 | |
| NM_001270447.2:c.950_953dup | NP_001257376.1:p.Pro319AlafsTer3 | |
| NM_001270448.2:c.653_656dup | NP_001257377.1:p.Pro220AlafsTer3 |