Linked Data
gnomAD v4:
5-135028581-T-TGTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028582_135028583insTGG , CM000667.2:g.135028582_135028583insTGG | GRCh38 |
| NC_000005.9:g.134364272_134364273insTGG , CM000667.1:g.134364272_134364273insTGG | GRCh37 |
| NC_000005.8:g.134392171_134392172insTGG | NCBI36 |
| NG_012114.1:g.10693_10694insCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*197_*198insCAC MANE Select | ENSP00000265340.6:n.*197_*198insCAC | |
| ENST00000265340.11:c.*197_*198insCAC | ENSP00000265340.6:n.*197_*198insCAC | |
| ENST00000506438.5:c.*197_*198insCAC | ENSP00000427542.1:n.*197_*198insCAC | |
| NM_002653.4:c.*197_*198insCAC | NP_002644.4:n.*197_*198insCAC | |
| NM_002653.5:c.*197_*198insCAC MANE Select | NP_002644.4:n.*197_*198insCAC |