Linked Data
ClinVar Variation Id:
487399
dbSNP Id:
rs397508693
gnomAD v4:
7-117665515-TTC-T
MyVariant Identifiers:
chr7:g.117305573_117305574del (hg19)
chr7:g.117305572_117305573del (hg19)
chr7:g.117305570_117305571del (hg19)
chr7:g.117665519_117665520del (hg38)
chr7:g.117665518_117665519del (hg38)
chr7:g.117665517_117665518del (hg38)
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665519_117665520del , CM000669.2:g.117665519_117665520del | GRCh38 |
| NC_000007.13:g.117305573_117305574del , CM000669.1:g.117305573_117305574del | GRCh37 |
| NC_000007.12:g.117092809_117092810del | NCBI36 |
| NG_016465.4:g.204736_204737del , LRG_663:g.204736_204737del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*406_*407del | ENSP00000497673.2:n.*406_*407del | |
| ENST00000647978.2:c.*3911_*3912del | ENSP00000497658.1:n.*3911_*3912del | |
| ENST00000649781.2:c.4014_4015del | ENSP00000497203.1:p.Cys1339Ter | |
| ENST00000685018.2:c.*410_*411del | ENSP00000510194.2:n.*410_*411del | |
| ENST00000687278.2:c.*850_*851del | ENSP00000509593.2:n.*850_*851del | |
| ENST00000699585.1:c.*406_*407del | ENSP00000514456.1:n.*406_*407del | |
| ENST00000699598.1:c.4197_4198del | ENSP00000514467.1:p.Cys1400Ter | |
| ENST00000699599.1:c.*410_*411del | ENSP00000514468.1:n.*410_*411del | |
| ENST00000699600.1:c.*858_*859del | ENSP00000514469.1:n.*858_*859del | |
| ENST00000699601.1:c.*2572_*2573del | ENSP00000514470.1:n.*2572_*2573del | |
| ENST00000699602.1:c.4191_4192del | ENSP00000514471.1:p.Cys1398Ter | |
| ENST00000699604.1:c.*4021_*4022del | ENSP00000514472.1:n.*4021_*4022del | |
| ENST00000699605.1:c.3771_3772del | ENSP00000514473.1:p.Cys1258Ter | |
| ENST00000699606.1:n.2365_2366del | ||
| ENST00000685018.1:c.1061_1062del | ENSP00000510194.1:n.1061_1062del | |
| ENST00000687278.1:c.1984_1985del | ENSP00000509593.1:n.1984_1985del | |
| ENST00000689011.1:c.779_780del | ||
| ENST00000003084.11:c.4197_4198del MANE Select | ENSP00000003084.6:p.Cys1400Ter | |
| ENST00000647720.1:c.1647_1648del | ||
| ENST00000649781.1:c.4014_4015del | ENSP00000497203.1:p.Cys1339Ter | |
| ENST00000003084.10:c.4197_4198del | ENSP00000003084.6:p.Cys1400Ter | |
| ENST00000426809.5:c.4107_4108del | ENSP00000389119.1:p.Cys1370Ter | |
| ENST00000600166.1:c.323_324del | ||
| NM_000492.3:c.4197_4198del , LRG_663t1:c.4197_4198del | NP_000483.3:p.Cys1400Ter | |
| XM_011515751.1:c.4287_4288del | XP_011514053.1:p.Cys1430Ter | |
| XM_011515752.1:c.4287_4288del | XP_011514054.1:p.Cys1430Ter | |
| XM_011515753.1:c.3954_3955del | XP_011514055.1:p.Cys1319Ter | |
| XM_011515754.1:c.3954_3955del | XP_011514056.1:p.Cys1319Ter | |
| NM_000492.4:c.4197_4198del MANE Select | NP_000483.3:p.Cys1400Ter |