Linked Data
gnomAD v4:
5-135028467-A-ACCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028467_135028468insCCAC , CM000667.2:g.135028467_135028468insCCAC | GRCh38 |
| NC_000005.9:g.134364157_134364158insCCAC , CM000667.1:g.134364157_134364158insCCAC | GRCh37 |
| NC_000005.8:g.134392056_134392057insCCAC | NCBI36 |
| NG_012114.1:g.10807_10808insGTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*311_*312insGTGG MANE Select | ENSP00000265340.6:n.*311_*312insGTGG | |
| ENST00000265340.11:c.*311_*312insGTGG | ENSP00000265340.6:n.*311_*312insGTGG | |
| NM_002653.4:c.*311_*312insGTGG | NP_002644.4:n.*311_*312insGTGG | |
| NM_002653.5:c.*311_*312insGTGG MANE Select | NP_002644.4:n.*311_*312insGTGG |