Linked Data
gnomAD v4:
5-135028473-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028474_135028475insTA , CM000667.2:g.135028474_135028475insTA | GRCh38 |
| NC_000005.9:g.134364164_134364165insTA , CM000667.1:g.134364164_134364165insTA | GRCh37 |
| NC_000005.8:g.134392063_134392064insTA | NCBI36 |
| NG_012114.1:g.10801_10802insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.*305_*306insAT MANE Select | ENSP00000265340.6:n.*305_*306insAT | |
| ENST00000265340.11:c.*305_*306insAT | ENSP00000265340.6:n.*305_*306insAT | |
| NM_002653.4:c.*305_*306insAT | NP_002644.4:n.*305_*306insAT | |
| NM_002653.5:c.*305_*306insAT MANE Select | NP_002644.4:n.*305_*306insAT |