Linked Data
gnomAD v4:
14-23431325-A-AGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431335_23431338dup , CM000676.2:g.23431335_23431338dup | GRCh38 |
| NC_000014.8:g.23900544_23900547dup , CM000676.1:g.23900544_23900547dup | GRCh37 |
| NC_000014.7:g.22970384_22970387dup | NCBI36 |
| NG_007884.1:g.9333_9336dup , LRG_384:g.9333_9336dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.796+89_796+92dup MANE Select | ENSP00000347507.3:n.796+89_796+92dup | |
| ENST00000355349.3:c.796+89_796+92dup | ENSP00000347507.3:n.796+89_796+92dup | |
| NM_000257.3:c.796+89_796+92dup | NP_000248.2:n.796+89_796+92dup | |
| XR_245686.3:n.902+89_902+92dup | ||
| XM_017021340.1:c.796+89_796+92dup | XP_016876829.1:n.796+89_796+92dup | |
| NM_000257.4:c.796+89_796+92dup MANE Select | NP_000248.2:n.796+89_796+92dup |