Linked Data
gnomAD v4:
6-6145391-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6145392dup , CM000668.2:g.6145392dup | GRCh38 |
| NC_000006.11:g.6145625dup , CM000668.1:g.6145625dup | GRCh37 |
| NC_000006.10:g.6090624dup | NCBI36 |
| NG_008107.1:g.180300dup , LRG_549:g.180300dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.*227dup MANE Select | ENSP00000264870.3:n.*227dup | |
| ENST00000264870.7:c.*227dup | ENSP00000264870.3:n.*227dup | |
| NM_000129.3:c.*227dup , LRG_549t1:c.*227dup | NP_000120.2:n.*227dup | |
| XM_006715010.2:c.*227dup | XP_006715073.1:n.*227dup | |
| XM_011514342.1:c.*227dup | XP_011512644.1:n.*227dup | |
| NM_000129.4:c.*227dup MANE Select | NP_000120.2:n.*227dup |