Linked Data
ClinVar Variation Id:
52203
dbSNP Id:
rs80359626
MyVariant Identifiers:
chr13:g.32915325_32915329del (hg19)
chr13:g.32915321_32915325del (hg19)
chr13:g.32341188_32341192del (hg38)
chr13:g.32341184_32341188del (hg38)
PubMed:
PMID:8988179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32341188_32341192del , CM000675.2:g.32341188_32341192del | GRCh38 |
| NC_000013.10:g.32915325_32915329del , CM000675.1:g.32915325_32915329del | GRCh37 |
| NC_000013.9:g.31813325_31813329del | NCBI36 |
| NG_012772.3:g.30709_30713del , LRG_293:g.30709_30713del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.6833_6837del | ENSP00000434898.2:p.Ile2278SerfsTer13 | |
| ENST00000528762.2:c.6833_6837del | ENSP00000433168.2:p.Ile2278SerfsTer13 | |
| ENST00000530893.7:c.6464_6468del | ENSP00000499438.2:p.Ile2155SerfsTer13 | |
| ENST00000665585.2:c.6833_6837del | ENSP00000499570.2:p.Ile2278SerfsTer13 | |
| ENST00000666593.2:c.6833_6837del | ENSP00000499256.2:p.Ile2278SerfsTer13 | |
| ENST00000700202.2:c.6833_6837del | ENSP00000514856.2:p.Ile2278SerfsTer13 | |
| ENST00000380152.8:c.6833_6837del MANE Select | ENSP00000369497.3:p.Ile2278SerfsTer13 | |
| ENST00000544455.6:c.6833_6837del | ENSP00000439902.1:p.Ile2278SerfsTer13 | |
| ENST00000614259.2:c.6833_6837del | ENSP00000506251.1:p.Ile2278SerfsTer13 | |
| ENST00000680887.1:c.6833_6837del | ENSP00000505508.1:p.Ile2278SerfsTer13 | |
| ENST00000380152.7:c.6833_6837del | ENSP00000369497.3:p.Ile2278SerfsTer13 | |
| ENST00000544455.5:c.6833_6837del | ENSP00000439902.1:p.Ile2278SerfsTer13 | |
| ENST00000614259.1:n.6833_6837del | ||
| NM_000059.3:c.6833_6837del , LRG_293t1:c.6833_6837del | NP_000050.2:p.Ile2278SerfsTer13 | |
| XM_011535203.1:c.6833_6837del | XP_011533505.1:p.Ile2278SerfsTer13 | |
| XM_011535204.1:c.6833_6837del | XP_011533506.1:p.Ile2278SerfsTer28 | |
| XM_011535205.1:c.6833_6837del | XP_011533507.1:p.Ile2278SerfsTer13 | |
| NM_000059.4:c.6833_6837del MANE Select | NP_000050.3:p.Ile2278SerfsTer13 |