Linked Data
ClinVar Variation Id:
52387
ClinVar RCV Id:
RCV000257502
dbSNP Id:
rs397507933
PubMed:
PMID:9150172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32357805_32357806insT , CM000675.2:g.32357805_32357806insT | GRCh38 |
| NC_000013.10:g.32931942_32931943insT , CM000675.1:g.32931942_32931943insT | GRCh37 |
| NC_000013.9:g.31829942_31829943insT | NCBI36 |
| NG_012772.3:g.47326_47327insT , LRG_293:g.47326_47327insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7681_7682insT | ENSP00000434898.2:p.Gln2561LeufsTer5 | |
| ENST00000528762.2:c.7681_7682insT | ENSP00000433168.2:p.Gln2561LeufsTer5 | |
| ENST00000530893.7:c.7312_7313insT | ENSP00000499438.2:p.Gln2438LeufsTer5 | |
| ENST00000665585.2:c.7681_7682insT | ENSP00000499570.2:p.Gln2561LeufsTer5 | |
| ENST00000666593.2:c.7681_7682insT | ENSP00000499256.2:p.Gln2561LeufsTer5 | |
| ENST00000700202.2:c.7681_7682insT | ENSP00000514856.2:p.Gln2561LeufsTer5 | |
| ENST00000700202.1:c.148_149insT | ENSP00000514856.1:p.Gln50LeufsTer5 | |
| ENST00000380152.8:c.7681_7682insT MANE Select | ENSP00000369497.3:p.Gln2561LeufsTer5 | |
| ENST00000544455.6:c.7681_7682insT | ENSP00000439902.1:p.Gln2561LeufsTer5 | |
| ENST00000614259.2:c.7681_7682insT | ENSP00000506251.1:p.Gln2561LeufsTer5 | |
| ENST00000665585.1:c.246_247insT | ||
| ENST00000680887.1:c.7681_7682insT | ENSP00000505508.1:p.Gln2561LeufsTer5 | |
| ENST00000380152.7:c.7681_7682insT | ENSP00000369497.3:p.Gln2561LeufsTer5 | |
| ENST00000544455.5:c.7681_7682insT | ENSP00000439902.1:p.Gln2561LeufsTer5 | |
| ENST00000614259.1:n.7681_7682insT | ||
| NM_000059.3:c.7681_7682insT , LRG_293t1:c.7681_7682insT | NP_000050.2:p.Gln2561LeufsTer5 | |
| XM_011535203.1:c.7681_7682insT | XP_011533505.1:p.Gln2561LeufsTer5 | |
| XM_011535204.1:c.7585_7586insT | XP_011533506.1:p.Gln2529LeufsTer5 | |
| XM_011535205.1:c.7681_7682insT | XP_011533507.1:p.Gln2561LeufsTer5 | |
| NM_000059.4:c.7681_7682insT MANE Select | NP_000050.3:p.Gln2561LeufsTer5 |