Linked Data
ClinVar Variation Id:
53816
ClinVar RCV Id:
RCV000577251
dbSNP Id:
rs397508612
gnomAD v4:
7-117642531-GGT-G
PubMed:
PMID:17020467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642536_117642537del , CM000669.2:g.117642536_117642537del | GRCh38 |
| NC_000007.13:g.117282590_117282591del , CM000669.1:g.117282590_117282591del | GRCh37 |
| NC_000007.12:g.117069826_117069827del | NCBI36 |
| NG_016465.4:g.181753_181754del , LRG_663:g.181753_181754del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*25_*26del | ENSP00000497673.2:n.*25_*26del | |
| ENST00000647978.2:c.*3530_*3531del | ENSP00000497658.1:n.*3530_*3531del | |
| ENST00000649781.2:c.3633_3634del | ENSP00000497203.1:p.Ser1212LeufsTer28 | |
| ENST00000685018.2:c.3816_3817del | ENSP00000510194.2:p.Ser1273LeufsTer? | |
| ENST00000687278.2:c.*469_*470del | ENSP00000509593.2:n.*469_*470del | |
| ENST00000699585.1:c.*25_*26del | ENSP00000514456.1:n.*25_*26del | |
| ENST00000699598.1:c.3816_3817del | ENSP00000514467.1:p.Ser1273LeufsTer28 | |
| ENST00000699599.1:c.3816_3817del | ENSP00000514468.1:p.Ser1273LeufsTer? | |
| ENST00000699600.1:c.*477_*478del | ENSP00000514469.1:n.*477_*478del | |
| ENST00000699601.1:c.*2191_*2192del | ENSP00000514470.1:n.*2191_*2192del | |
| ENST00000699602.1:c.3810_3811del | ENSP00000514471.1:p.Ser1271LeufsTer28 | |
| ENST00000699604.1:c.*3640_*3641del | ENSP00000514472.1:n.*3640_*3641del | |
| ENST00000699605.1:c.3390_3391del | ENSP00000514473.1:p.Ser1131LeufsTer28 | |
| ENST00000685018.1:c.564_565del | ENSP00000510194.1:p.Ser189LeufsTer? | |
| ENST00000687278.1:c.1603_1604del | ENSP00000509593.1:n.1603_1604del | |
| ENST00000689011.1:c.398_399del | ||
| ENST00000003084.11:c.3816_3817del MANE Select | ENSP00000003084.6:p.Ser1273LeufsTer28 | |
| ENST00000647720.1:c.1266_1267del | ||
| ENST00000649781.1:c.3633_3634del | ENSP00000497203.1:p.Ser1212LeufsTer28 | |
| ENST00000003084.10:c.3816_3817del | ENSP00000003084.6:p.Ser1273LeufsTer28 | |
| ENST00000426809.5:c.3726_3727del | ENSP00000389119.1:p.Ser1243LeufsTer28 | |
| NM_000492.3:c.3816_3817del , LRG_663t1:c.3816_3817del | NP_000483.3:p.Ser1273LeufsTer28 | |
| XM_011515751.1:c.3906_3907del | XP_011514053.1:p.Ser1303LeufsTer28 | |
| XM_011515752.1:c.3906_3907del | XP_011514054.1:p.Ser1303LeufsTer28 | |
| XM_011515753.1:c.3573_3574del | XP_011514055.1:p.Ser1192LeufsTer28 | |
| XM_011515754.1:c.3573_3574del | XP_011514056.1:p.Ser1192LeufsTer28 | |
| NM_000492.4:c.3816_3817del MANE Select | NP_000483.3:p.Ser1273LeufsTer28 |