Linked Data
ClinVar Variation Id:
51097
ClinVar RCV Id:
RCV000257480
dbSNP Id:
rs397507577
PubMed:
PMID:11793480
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32332778_32332781del , CM000675.2:g.32332778_32332781del | GRCh38 |
| NC_000013.10:g.32906915_32906918del , CM000675.1:g.32906915_32906918del | GRCh37 |
| NC_000013.9:g.31804915_31804918del | NCBI36 |
| NG_012772.3:g.22299_22302del , LRG_293:g.22299_22302del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.1300_1303del | ENSP00000434898.2:p.Lys434GlufsTer25 | |
| ENST00000528762.2:c.1300_1303del | ENSP00000433168.2:p.Lys434GlufsTer25 | |
| ENST00000530893.7:c.931_934del | ENSP00000499438.2:p.Lys311GlufsTer25 | |
| ENST00000665585.2:c.1300_1303del | ENSP00000499570.2:p.Lys434GlufsTer25 | |
| ENST00000666593.2:c.1300_1303del | ENSP00000499256.2:p.Lys434GlufsTer25 | |
| ENST00000700202.2:c.1300_1303del | ENSP00000514856.2:p.Lys434GlufsTer25 | |
| ENST00000700201.1:c.*1079_*1082del | ENSP00000514855.1:n.*1079_*1082del | |
| ENST00000380152.8:c.1300_1303del MANE Select | ENSP00000369497.3:p.Lys434GlufsTer25 | |
| ENST00000544455.6:c.1300_1303del | ENSP00000439902.1:p.Lys434GlufsTer25 | |
| ENST00000614259.2:c.1300_1303del | ENSP00000506251.1:p.Lys434GlufsTer25 | |
| ENST00000680887.1:c.1300_1303del | ENSP00000505508.1:p.Lys434GlufsTer25 | |
| ENST00000380152.7:c.1300_1303del | ENSP00000369497.3:p.Lys434GlufsTer25 | |
| ENST00000530893.6:n.1498_1501del | ||
| ENST00000544455.5:c.1300_1303del | ENSP00000439902.1:p.Lys434GlufsTer25 | |
| ENST00000614259.1:n.1300_1303del | ||
| NM_000059.3:c.1300_1303del , LRG_293t1:c.1300_1303del | NP_000050.2:p.Lys434GlufsTer25 | |
| XM_011535203.1:c.1300_1303del | XP_011533505.1:p.Lys434GlufsTer25 | |
| XM_011535204.1:c.1300_1303del | XP_011533506.1:p.Lys434GlufsTer25 | |
| XM_011535205.1:c.1300_1303del | XP_011533507.1:p.Lys434GlufsTer25 | |
| NM_000059.4:c.1300_1303del MANE Select | NP_000050.3:p.Lys434GlufsTer25 |