Linked Data
gnomAD v4:
5-135028775-G-GCGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028777_135028780dup , CM000667.2:g.135028777_135028780dup | GRCh38 |
| NC_000005.9:g.134364467_134364470dup , CM000667.1:g.134364467_134364470dup | GRCh37 |
| NC_000005.8:g.134392366_134392369dup | NCBI36 |
| NG_012114.1:g.10496_10499dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.945_*3dup MANE Select | ENSP00000265340.6:n.945_*3dup | |
| ENST00000265340.11:c.945_*3dup | ENSP00000265340.6:n.945_*3dup | |
| ENST00000506438.5:c.945_*3dup | ENSP00000427542.1:n.945_*3dup | |
| NM_002653.4:c.945_*3dup | NP_002644.4:n.945_*3dup | |
| NM_002653.5:c.945_*3dup MANE Select | NP_002644.4:n.945_*3dup |