Linked Data
dbSNP Id:
rs1396942040
MyVariant Identifiers:
chr5:g.134364160_134364161insCC (hg19)
chr5:g.135028470_135028471insCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028471_135028472insCC , CM000667.2:g.135028471_135028472insCC | GRCh38 |
| NC_000005.9:g.134364161_134364162insCC , CM000667.1:g.134364161_134364162insCC | GRCh37 |
| NC_000005.8:g.134392060_134392061insCC | NCBI36 |
| NG_012114.1:g.10804_10805insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*308_*309insGG MANE Select | ENSP00000265340.6:n.*308_*309insGG | |
| ENST00000265340.11:c.*308_*309insGG | ENSP00000265340.6:n.*308_*309insGG | |
| NM_002653.4:c.*308_*309insGG | NP_002644.4:n.*308_*309insGG | |
| NM_002653.5:c.*308_*309insGG MANE Select | NP_002644.4:n.*308_*309insGG |