Linked Data
ClinVar Variation Id:
91461
dbSNP Id:
rs398122568
gnomAD v2:
13-32918708-CAAAAG-C
gnomAD v4:
13-32344571-CAAAAG-C
MyVariant Identifiers:
chr13:g.32918712_32918716del (hg19)
chr13:g.32918709_32918713del (hg19)
chr13:g.32344575_32344579del (hg38)
chr13:g.32344572_32344576del (hg38)
PubMed:
PMID:12474142
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32344575_32344579del , CM000675.2:g.32344575_32344579del | GRCh38 |
| NC_000013.10:g.32918712_32918716del , CM000675.1:g.32918712_32918716del | GRCh37 |
| NC_000013.9:g.31816712_31816716del | NCBI36 |
| NG_012772.3:g.34096_34100del , LRG_293:g.34096_34100del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.6859_6863del | ENSP00000434898.2:p.Arg2287LeufsTer4 | |
| ENST00000528762.2:c.6859_6863del | ENSP00000433168.2:p.Arg2287LeufsTer4 | |
| ENST00000530893.7:c.6490_6494del | ENSP00000499438.2:p.Arg2164LeufsTer4 | |
| ENST00000665585.2:c.6859_6863del | ENSP00000499570.2:p.Arg2287LeufsTer4 | |
| ENST00000666593.2:c.6859_6863del | ENSP00000499256.2:p.Arg2287LeufsTer4 | |
| ENST00000700202.2:c.6859_6863del | ENSP00000514856.2:p.Arg2287LeufsTer4 | |
| ENST00000380152.8:c.6859_6863del MANE Select | ENSP00000369497.3:p.Arg2287LeufsTer4 | |
| ENST00000544455.6:c.6859_6863del | ENSP00000439902.1:p.Arg2287LeufsTer4 | |
| ENST00000614259.2:c.6859_6863del | ENSP00000506251.1:p.Arg2287LeufsTer4 | |
| ENST00000680887.1:c.6859_6863del | ENSP00000505508.1:p.Arg2287LeufsTer4 | |
| ENST00000380152.7:c.6859_6863del | ENSP00000369497.3:p.Arg2287LeufsTer4 | |
| ENST00000544455.5:c.6859_6863del | ENSP00000439902.1:p.Arg2287LeufsTer4 | |
| ENST00000614259.1:n.6859_6863del | ||
| NM_000059.3:c.6859_6863del , LRG_293t1:c.6859_6863del | NP_000050.2:p.Arg2287LeufsTer4 | |
| XM_011535203.1:c.6859_6863del | XP_011533505.1:p.Arg2287LeufsTer4 | |
| XM_011535204.1:c.6842-2252_6842-2248del | XP_011533506.1:n.6842-2252_6842-2248del | |
| XM_011535205.1:c.6859_6863del | XP_011533507.1:p.Arg2287LeufsTer4 | |
| NM_000059.4:c.6859_6863del MANE Select | NP_000050.3:p.Arg2287LeufsTer4 |