Linked Data
gnomAD v4:
7-21558773-T-TTAATTTAACTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21558775_21558785dup , CM000669.2:g.21558775_21558785dup | GRCh38 |
| NC_000007.13:g.21598393_21598403dup , CM000669.1:g.21598393_21598403dup | GRCh37 |
| NC_000007.12:g.21564918_21564928dup | NCBI36 |
| NG_012886.2:g.20561_20571dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.496-27_496-17dup MANE Select | ENSP00000475939.1:n.496-27_496-17dup | |
| ENST00000328843.10:c.496-27_496-17dup | ENSP00000330671.7:n.496-27_496-17dup | |
| ENST00000409508.7:c.496-27_496-17dup | ENSP00000475939.1:n.496-27_496-17dup | |
| ENST00000620169.4:c.496-27_496-17dup | ENSP00000481693.1:n.496-27_496-17dup | |
| NM_001277115.1:c.496-27_496-17dup | NP_001264044.1:n.496-27_496-17dup | |
| NM_001277115.2:c.496-27_496-17dup MANE Select | NP_001264044.1:n.496-27_496-17dup |