Linked Data
gnomAD v4:
6-24146109-T-TGCTGGAGGGCGGTGCCATGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24146110_24146130dup , CM000668.2:g.24146110_24146130dup | GRCh38 |
| NC_000006.11:g.24146338_24146358dup , CM000668.1:g.24146338_24146358dup | GRCh37 |
| NC_000006.10:g.24254317_24254337dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378491.9:c.*164_*184dup MANE Select | ENSP00000367752.4:n.*164_*184dup | |
| ENST00000378478.5:c.*164_*184dup | ENSP00000367739.2:n.*164_*184dup | |
| ENST00000378491.8:c.*164_*184dup | ENSP00000367752.4:n.*164_*184dup | |
| ENST00000468195.2:n.257-8661_257-8641dup | ||
| NM_080723.4:c.*164_*184dup | NP_542454.3:n.*164_*184dup | |
| NM_080723.5:c.*164_*184dup MANE Select | NP_542454.3:n.*164_*184dup |