Linked Data
ClinVar Variation Id:
126037
ClinVar RCV Id:
RCV000113276
RCV000215361
RCV000465953
RCV000485082
RCV002247496
RCV002477264
RCV003492436
dbSNP Id:
rs80359429
gnomAD v4:
13-32338486-C-CTGAGGA
MyVariant Identifiers:
chr13:g.32912623_32912624insTGAGGA (hg19)
chr13:g.32338486_32338487insTGAGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32338486_32338487insTGAGGA , CM000675.2:g.32338486_32338487insTGAGGA | GRCh38 |
| NC_000013.10:g.32912623_32912624insTGAGGA , CM000675.1:g.32912623_32912624insTGAGGA | GRCh37 |
| NC_000013.9:g.31810623_31810624insTGAGGA | NCBI36 |
| NG_012772.3:g.28007_28008insTGAGGA , LRG_293:g.28007_28008insTGAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.4131_4132insTGAGGA | ||
| ENST00000528762.2:c.4131_4132insTGAGGA | ||
| ENST00000530893.7:c.3762_3763insTGAGGA | ||
| ENST00000665585.2:c.4131_4132insTGAGGA | ||
| ENST00000666593.2:c.4131_4132insTGAGGA | ||
| ENST00000700202.2:c.4131_4132insTGAGGA | ||
| ENST00000380152.8:c.4131_4132insTGAGGA | ||
| ENST00000544455.6:c.4131_4132insTGAGGA | ||
| ENST00000614259.2:c.4131_4132insTGAGGA | ||
| ENST00000680887.1:c.4131_4132insTGAGGA | ||
| ENST00000380152.7:c.4131_4132insTGAGGA | ||
| ENST00000544455.5:c.4131_4132insTGAGGA | ||
| ENST00000614259.1:n.4131_4132insTGAGGA | ||
| NM_000059.3:c.4131_4132insTGAGGA , LRG_293t1:c.4131_4132insTGAGGA | ||
| XM_011535203.1:c.4131_4132insTGAGGA | ||
| XM_011535204.1:c.4131_4132insTGAGGA | ||
| XM_011535205.1:c.4131_4132insTGAGGA | ||
| NM_000059.4:c.4131_4132insTGAGGA |