Linked Data
ClinVar Variation Id:
53494
dbSNP Id:
rs397508380
gnomAD v2:
7-117232691-AT-A
gnomAD v4:
7-117592637-AT-A
MyVariant Identifiers:
chr7:g.117232693del (hg19)
chr7:g.117232692del (hg19)
chr7:g.117592639del (hg38)
chr7:g.117592638del (hg38)
PubMed:
PMID:17331079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592639del , CM000669.2:g.117592639del | GRCh38 |
| NC_000007.13:g.117232693del , CM000669.1:g.117232693del | GRCh37 |
| NC_000007.12:g.117019929del | NCBI36 |
| NG_016465.4:g.131856del , LRG_663:g.131856del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.2472del | ENSP00000497673.2:p.Asn825ThrfsTer5 | |
| ENST00000647978.2:c.*2186del | ENSP00000497658.1:n.*2186del | |
| ENST00000649781.2:c.2289del | ENSP00000497203.1:p.Asn764ThrfsTer5 | |
| ENST00000685018.2:c.2472del | ENSP00000510194.2:p.Asn825ThrfsTer5 | |
| ENST00000687278.2:c.2472del | ENSP00000509593.2:p.Asn825ThrfsTer5 | |
| ENST00000699585.1:c.2472del | ENSP00000514456.1:p.Asn825ThrfsTer5 | |
| ENST00000699598.1:c.2472del | ENSP00000514467.1:p.Asn825ThrfsTer5 | |
| ENST00000699599.1:c.2472del | ENSP00000514468.1:p.Asn825ThrfsTer5 | |
| ENST00000699600.1:c.2472del | ENSP00000514469.1:p.Asn825ThrfsTer5 | |
| ENST00000699601.1:c.*772del | ENSP00000514470.1:n.*772del | |
| ENST00000699602.1:c.2472del | ENSP00000514471.1:p.Asn825ThrfsTer5 | |
| ENST00000699604.1:c.*2296del | ENSP00000514472.1:n.*2296del | |
| ENST00000699605.1:c.2046del | ENSP00000514473.1:p.Asn683ThrfsTer5 | |
| ENST00000687278.1:c.63del | ENSP00000509593.1:p.Asn22ThrfsTer5 | |
| ENST00000003084.11:c.2472del MANE Select | ENSP00000003084.6:p.Asn825ThrfsTer5 | |
| ENST00000647720.1:c.122del | ||
| ENST00000647978.1:c.*2186del | ENSP00000497658.1:n.*2186del | |
| ENST00000648260.1:c.1402-10187del | ENSP00000497957.1:n.1402-10187del | |
| ENST00000649406.1:c.2289del | ENSP00000497965.1:p.Asn764ThrfsTer5 | |
| ENST00000649781.1:c.2289del | ENSP00000497203.1:p.Asn764ThrfsTer5 | |
| ENST00000003084.10:c.2472del | ENSP00000003084.6:p.Asn825ThrfsTer5 | |
| ENST00000426809.5:c.2382del | ENSP00000389119.1:p.Asn795ThrfsTer5 | |
| NM_000492.3:c.2472del , LRG_663t1:c.2472del | NP_000483.3:p.Asn825ThrfsTer5 | |
| XM_011515751.1:c.2562del | XP_011514053.1:p.Asn855ThrfsTer5 | |
| XM_011515752.1:c.2562del | XP_011514054.1:p.Asn855ThrfsTer5 | |
| XM_011515753.1:c.2229del | XP_011514055.1:p.Asn744ThrfsTer5 | |
| XM_011515754.1:c.2229del | XP_011514056.1:p.Asn744ThrfsTer5 | |
| NM_000492.4:c.2472del MANE Select | NP_000483.3:p.Asn825ThrfsTer5 |