Linked Data
gnomAD v4:
16-2278281-G-GCTCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2278282_2278285dup , CM000678.2:g.2278282_2278285dup | GRCh38 |
| NC_000016.9:g.2328283_2328286dup , CM000678.1:g.2328283_2328286dup | GRCh37 |
| NC_000016.8:g.2268284_2268287dup | NCBI36 |
| NG_011790.1:g.67462_67465dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.4718+3_4718+6dup MANE Select | ENSP00000301732.5:n.4718+3_4718+6dup | |
| ENST00000301732.9:c.4718+3_4718+6dup | ENSP00000301732.5:n.4718+3_4718+6dup | |
| ENST00000382381.7:c.4544+3_4544+6dup | ENSP00000371818.3:n.4544+3_4544+6dup | |
| NM_001089.2:c.4718+3_4718+6dup | NP_001080.2:n.4718+3_4718+6dup | |
| NM_001089.3:c.4718+3_4718+6dup MANE Select | NP_001080.2:n.4718+3_4718+6dup |