Linked Data
ClinVar Variation Id:
7231
dbSNP Id:
rs121908784
gnomAD v2:
7-117282517-CA-C
gnomAD v3:
7-117642463-CA-C
gnomAD v4:
7-117642463-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642464del , CM000669.2:g.117642464del | GRCh38 |
| NC_000007.13:g.117282518del , CM000669.1:g.117282518del | GRCh37 |
| NC_000007.12:g.117069754del | NCBI36 |
| NG_016465.4:g.181681del , LRG_663:g.181681del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3544del | ENSP00000497673.2:p.Arg1182GlyfsTer? | |
| ENST00000647978.2:c.*3458del | ENSP00000497658.1:n.*3458del | |
| ENST00000649781.2:c.3561del | ENSP00000497203.1:p.Lys1189ArgfsTer9 | |
| ENST00000685018.2:c.3744del | ENSP00000510194.2:p.Lys1250ArgfsTer9 | |
| ENST00000687278.2:c.*397del | ENSP00000509593.2:n.*397del | |
| ENST00000699585.1:c.3544del | ENSP00000514456.1:p.Arg1182GlyfsTer? | |
| ENST00000699598.1:c.3744del | ENSP00000514467.1:p.Lys1250ArgfsTer9 | |
| ENST00000699599.1:c.3744del | ENSP00000514468.1:p.Lys1250ArgfsTer9 | |
| ENST00000699600.1:c.*405del | ENSP00000514469.1:n.*405del | |
| ENST00000699601.1:c.*2119del | ENSP00000514470.1:n.*2119del | |
| ENST00000699602.1:c.3738del | ENSP00000514471.1:p.Lys1248ArgfsTer9 | |
| ENST00000699604.1:c.*3568del | ENSP00000514472.1:n.*3568del | |
| ENST00000699605.1:c.3318del | ENSP00000514473.1:p.Lys1108ArgfsTer9 | |
| ENST00000685018.1:c.492del | ENSP00000510194.1:p.Lys166ArgfsTer9 | |
| ENST00000687278.1:c.1531del | ENSP00000509593.1:n.1531del | |
| ENST00000689011.1:c.326del | ||
| ENST00000003084.11:c.3744del MANE Select | ENSP00000003084.6:p.Lys1250ArgfsTer9 | |
| ENST00000647720.1:c.1194del | ||
| ENST00000649781.1:c.3561del | ENSP00000497203.1:p.Lys1189ArgfsTer9 | |
| ENST00000003084.10:c.3744del | ENSP00000003084.6:p.Lys1250ArgfsTer9 | |
| ENST00000426809.5:c.3654del | ENSP00000389119.1:p.Lys1220ArgfsTer9 | |
| NM_000492.3:c.3744del , LRG_663t1:c.3744del | NP_000483.3:p.Lys1250ArgfsTer9 | |
| XM_011515751.1:c.3834del | XP_011514053.1:p.Lys1280ArgfsTer9 | |
| XM_011515752.1:c.3834del | XP_011514054.1:p.Lys1280ArgfsTer9 | |
| XM_011515753.1:c.3501del | XP_011514055.1:p.Lys1169ArgfsTer9 | |
| XM_011515754.1:c.3501del | XP_011514056.1:p.Lys1169ArgfsTer9 | |
| NM_000492.4:c.3744del MANE Select | NP_000483.3:p.Lys1250ArgfsTer9 |