Linked Data
ClinVar Variation Id:
92292
dbSNP Id:
rs387906252
ExAC:
17:7125996 GAGA / G
gnomAD v2:
17-7125996-GAGA-G
gnomAD v3:
17-7222677-GAGA-G
gnomAD v4:
17-7222677-GAGA-G
MyVariant Identifiers:
chr17:g.7126003_7126005del (hg19)
chr17:g.7125997_7125999del (hg19)
chr17:g.7126003_7126005delAGA (hg19)
chr17:g.7222684_7222686del (hg38)
chr17:g.7222678_7222680del (hg38)
PubMed:
PMID:8554073
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222684_7222686del , CM000679.2:g.7222684_7222686del | GRCh38 |
| NC_000017.10:g.7126003_7126005del , CM000679.1:g.7126003_7126005del | GRCh37 |
| NC_000017.9:g.7066727_7066729del | NCBI36 |
| NG_007975.1:g.7851_7853del | |
| NG_008391.2:g.2371_2373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.896_898del MANE Select | ENSP00000349297.5:p.Lys299del | |
| ENST00000322910.9:c.*851_*853del | ENSP00000325395.5:n.*851_*853del | |
| ENST00000350303.9:c.830_832del | ENSP00000344152.5:p.Lys277del | |
| ENST00000356839.9:c.896_898del | ENSP00000349297.5:p.Lys299del | |
| ENST00000543245.6:c.965_967del | ENSP00000438689.2:p.Lys322del | |
| ENST00000578824.5:n.45_47del | ||
| ENST00000581378.5:c.614_616del | ||
| ENST00000582379.1:n.280_282del | ||
| NM_000018.3:c.896_898del | NP_000009.1:p.Lys299del | |
| NM_001033859.2:c.830_832del | NP_001029031.1:p.Lys277del | |
| NM_001270447.1:c.965_967del | NP_001257376.1:p.Lys322del | |
| NM_001270448.1:c.668_670del | NP_001257377.1:p.Lys223del | |
| XM_006721516.2:c.896_898del | XP_006721579.2:p.Lys299del | |
| XM_011523829.1:c.896_898del | XP_011522131.1:p.Lys299del | |
| XM_011523830.1:c.896_898del | XP_011522132.1:p.Lys299del | |
| XR_934021.1:n.1003_1005del | ||
| XR_934022.1:n.1003_1005del | ||
| XR_934023.1:n.1003_1005del | ||
| XM_006721516.3:c.896_898del | XP_006721579.2:p.Lys299del | |
| XM_011523829.2:c.896_898del | XP_011522131.1:p.Lys299del | |
| XM_011523830.2:c.896_898del | XP_011522132.1:p.Lys299del | |
| XM_024450741.1:c.896_898del | XP_024306509.1:p.Lys299del | |
| XR_934021.2:n.955_957del | ||
| XR_934022.2:n.955_957del | ||
| XR_934023.2:n.955_957del | ||
| NM_000018.4:c.896_898del MANE Select | NP_000009.1:p.Lys299del | |
| NM_001033859.3:c.830_832del | NP_001029031.1:p.Lys277del | |
| NM_001270447.2:c.965_967del | NP_001257376.1:p.Lys322del | |
| NM_001270448.2:c.668_670del | NP_001257377.1:p.Lys223del |