Linked Data
ClinVar Variation Id:
52660
ClinVar RCV Id:
RCV000113988
dbSNP Id:
rs80359726
PubMed:
PMID:11595708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376750_32376753del , CM000675.2:g.32376750_32376753del | GRCh38 |
| NC_000013.10:g.32950887_32950890del , CM000675.1:g.32950887_32950890del | GRCh37 |
| NC_000013.9:g.31848887_31848890del | NCBI36 |
| NG_012772.3:g.66271_66274del , LRG_293:g.66271_66274del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8713_8716del | ENSP00000434898.2:p.Tyr2905LysfsTer3 | |
| ENST00000528762.2:c.*80_*83del | ENSP00000433168.2:n.*80_*83del | |
| ENST00000530893.7:c.8344_8347del | ENSP00000499438.2:p.Tyr2782LysfsTer3 | |
| ENST00000665585.2:c.*275_*278del | ENSP00000499570.2:n.*275_*278del | |
| ENST00000666593.2:c.8713_8716del | ENSP00000499256.2:p.Tyr2905LysfsTer3 | |
| ENST00000700202.2:c.8713_8716del | ENSP00000514856.2:p.Tyr2905LysfsTer3 | |
| ENST00000700202.1:c.1180_1183del | ENSP00000514856.1:p.Tyr394LysfsTer3 | |
| ENST00000700203.1:n.840_843del | ||
| ENST00000380152.8:c.8713_8716del MANE Select | ENSP00000369497.3:p.Tyr2905LysfsTer3 | |
| ENST00000544455.6:c.8713_8716del | ENSP00000439902.1:p.Tyr2905LysfsTer3 | |
| ENST00000614259.2:c.8721_8724del | ENSP00000506251.1:n.8721_8724del | |
| ENST00000665585.1:c.1591_1594del | ||
| ENST00000680887.1:c.8713_8716del | ENSP00000505508.1:p.Tyr2905LysfsTer3 | |
| ENST00000380152.7:c.8713_8716del | ENSP00000369497.3:p.Tyr2905LysfsTer3 | |
| ENST00000528762.1:c.275_278del | ENSP00000433168.1:n.275_278del | |
| ENST00000544455.5:c.8713_8716del | ENSP00000439902.1:p.Tyr2905LysfsTer3 | |
| NM_000059.3:c.8713_8716del , LRG_293t1:c.8713_8716del | NP_000050.2:p.Tyr2905LysfsTer3 | |
| XM_011535203.1:c.8713_8716del | XP_011533505.1:p.Tyr2905LysfsTer3 | |
| XM_011535204.1:c.8617_8620del | XP_011533506.1:p.Tyr2873LysfsTer3 | |
| XM_011535205.1:c.8713_8716del | XP_011533507.1:p.Tyr2905LysfsTer3 | |
| NM_000059.4:c.8713_8716del MANE Select | NP_000050.3:p.Tyr2905LysfsTer3 |