Linked Data
ClinVar Variation Id:
53759
ClinVar RCV Id:
RCV000577078
dbSNP Id:
rs397508575
PubMed:
PMID:20059485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627539_117627540del , CM000669.2:g.117627539_117627540del | GRCh38 |
| NC_000007.13:g.117267593_117267594del , CM000669.1:g.117267593_117267594del | GRCh37 |
| NC_000007.12:g.117054829_117054830del | NCBI36 |
| NG_016465.4:g.166756_166757del , LRG_663:g.166756_166757del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3486_3487del | ENSP00000497673.2:p.Val1163LeufsTer2 | |
| ENST00000647978.2:c.*3200_*3201del | ENSP00000497658.1:n.*3200_*3201del | |
| ENST00000649781.2:c.3303_3304del | ENSP00000497203.1:p.Val1102LeufsTer2 | |
| ENST00000685018.2:c.3486_3487del | ENSP00000510194.2:p.Val1163LeufsTer2 | |
| ENST00000687278.2:c.*139_*140del | ENSP00000509593.2:n.*139_*140del | |
| ENST00000699585.1:c.3486_3487del | ENSP00000514456.1:p.Val1163LeufsTer2 | |
| ENST00000699598.1:c.3486_3487del | ENSP00000514467.1:p.Val1163LeufsTer2 | |
| ENST00000699599.1:c.3486_3487del | ENSP00000514468.1:p.Val1163LeufsTer2 | |
| ENST00000699600.1:c.*147_*148del | ENSP00000514469.1:n.*147_*148del | |
| ENST00000699601.1:c.*1861_*1862del | ENSP00000514470.1:n.*1861_*1862del | |
| ENST00000699602.1:c.3480_3481del | ENSP00000514471.1:p.Val1161LeufsTer2 | |
| ENST00000699604.1:c.*3310_*3311del | ENSP00000514472.1:n.*3310_*3311del | |
| ENST00000699605.1:c.3060_3061del | ENSP00000514473.1:p.Val1021LeufsTer2 | |
| ENST00000685018.1:c.234_235del | ENSP00000510194.1:p.Val79LeufsTer2 | |
| ENST00000687278.1:c.1273_1274del | ENSP00000509593.1:n.1273_1274del | |
| ENST00000689011.1:c.68_69del | ||
| ENST00000003084.11:c.3486_3487del MANE Select | ENSP00000003084.6:p.Val1163LeufsTer2 | |
| ENST00000647720.1:c.1136_1137del | ||
| ENST00000648260.1:c.2268_2269del | ENSP00000497957.1:p.Val757LeufsTer2 | |
| ENST00000649406.1:c.3303_3304del | ENSP00000497965.1:p.Val1102LeufsTer2 | |
| ENST00000649781.1:c.3303_3304del | ENSP00000497203.1:p.Val1102LeufsTer2 | |
| ENST00000003084.10:c.3486_3487del | ENSP00000003084.6:p.Val1163LeufsTer2 | |
| ENST00000426809.5:c.3396_3397del | ENSP00000389119.1:p.Val1133LeufsTer2 | |
| ENST00000468795.1:c.311_312del | ||
| NM_000492.3:c.3486_3487del , LRG_663t1:c.3486_3487del | NP_000483.3:p.Val1163LeufsTer2 | |
| XM_011515751.1:c.3576_3577del | XP_011514053.1:p.Val1193LeufsTer2 | |
| XM_011515752.1:c.3576_3577del | XP_011514054.1:p.Val1193LeufsTer2 | |
| XM_011515753.1:c.3243_3244del | XP_011514055.1:p.Val1082LeufsTer2 | |
| XM_011515754.1:c.3243_3244del | XP_011514056.1:p.Val1082LeufsTer2 | |
| NM_000492.4:c.3486_3487del MANE Select | NP_000483.3:p.Val1163LeufsTer2 |