Linked Data
gnomAD v4:
5-135028644-A-AGGGGGCTGCGCAGGTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028646_135028662dup , CM000667.2:g.135028646_135028662dup | GRCh38 |
| NC_000005.9:g.134364336_134364352dup , CM000667.1:g.134364336_134364352dup | GRCh37 |
| NC_000005.8:g.134392235_134392251dup | NCBI36 |
| NG_012114.1:g.10614_10630dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*118_*134dup MANE Select | ENSP00000265340.6:n.*118_*134dup | |
| ENST00000265340.11:c.*118_*134dup | ENSP00000265340.6:n.*118_*134dup | |
| ENST00000506438.5:c.*118_*134dup | ENSP00000427542.1:n.*118_*134dup | |
| NM_002653.4:c.*118_*134dup | NP_002644.4:n.*118_*134dup | |
| NM_002653.5:c.*118_*134dup MANE Select | NP_002644.4:n.*118_*134dup |