Linked Data
ClinVar Variation Id:
53813
ClinVar RCV Id:
RCV000577419
dbSNP Id:
rs397508610
PubMed:
PMID:7526927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642500_117642502del , CM000669.2:g.117642500_117642502del | GRCh38 |
| NC_000007.13:g.117282554_117282556del , CM000669.1:g.117282554_117282556del | GRCh37 |
| NC_000007.12:g.117069790_117069792del | NCBI36 |
| NG_016465.4:g.181717_181719del , LRG_663:g.181717_181719del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3580_3582del | ENSP00000497673.2:p.Thr1194del | |
| ENST00000647978.2:c.*3494_*3496del | ENSP00000497658.1:n.*3494_*3496del | |
| ENST00000649781.2:c.3597_3599del | ENSP00000497203.1:p.Leu1200del | |
| ENST00000685018.2:c.3780_3782del | ENSP00000510194.2:p.Leu1261del | |
| ENST00000687278.2:c.*433_*435del | ENSP00000509593.2:n.*433_*435del | |
| ENST00000699585.1:c.3580_3582del | ENSP00000514456.1:p.Thr1194del | |
| ENST00000699598.1:c.3780_3782del | ENSP00000514467.1:p.Leu1261del | |
| ENST00000699599.1:c.3780_3782del | ENSP00000514468.1:p.Leu1261del | |
| ENST00000699600.1:c.*441_*443del | ENSP00000514469.1:n.*441_*443del | |
| ENST00000699601.1:c.*2155_*2157del | ENSP00000514470.1:n.*2155_*2157del | |
| ENST00000699602.1:c.3774_3776del | ENSP00000514471.1:p.Leu1259del | |
| ENST00000699604.1:c.*3604_*3606del | ENSP00000514472.1:n.*3604_*3606del | |
| ENST00000699605.1:c.3354_3356del | ENSP00000514473.1:p.Leu1119del | |
| ENST00000685018.1:c.528_530del | ENSP00000510194.1:p.Leu177del | |
| ENST00000687278.1:c.1567_1569del | ENSP00000509593.1:n.1567_1569del | |
| ENST00000689011.1:c.362_364del | ||
| ENST00000003084.11:c.3780_3782del MANE Select | ENSP00000003084.6:p.Leu1261del | |
| ENST00000647720.1:c.1230_1232del | ||
| ENST00000649781.1:c.3597_3599del | ENSP00000497203.1:p.Leu1200del | |
| ENST00000003084.10:c.3780_3782del | ENSP00000003084.6:p.Leu1261del | |
| ENST00000426809.5:c.3690_3692del | ENSP00000389119.1:p.Leu1231del | |
| NM_000492.3:c.3780_3782del , LRG_663t1:c.3780_3782del | NP_000483.3:p.Leu1261del | |
| XM_011515751.1:c.3870_3872del | XP_011514053.1:p.Leu1291del | |
| XM_011515752.1:c.3870_3872del | XP_011514054.1:p.Leu1291del | |
| XM_011515753.1:c.3537_3539del | XP_011514055.1:p.Leu1180del | |
| XM_011515754.1:c.3537_3539del | XP_011514056.1:p.Leu1180del | |
| NM_000492.4:c.3780_3782del MANE Select | NP_000483.3:p.Leu1261del |