Linked Data
gnomAD v4:
11-22624942-T-TGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22624944_22624946dup , CM000673.2:g.22624944_22624946dup | GRCh38 |
| NC_000011.9:g.22646490_22646492dup , CM000673.1:g.22646490_22646492dup | GRCh37 |
| NC_000011.8:g.22603066_22603068dup | NCBI36 |
| NG_007425.1:g.5897_5899dup , LRG_527:g.5897_5899dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.866_868dup MANE Select | ENSP00000330875.3:p.Leu289_Gln290insLeu | |
| ENST00000327470.4:c.866_868dup | ENSP00000330875.3:p.Leu289_Gln290insLeu | |
| NM_022725.3:c.866_868dup , LRG_527t1:c.866_868dup | NP_073562.1:p.Leu289_Gln290insLeu | |
| NM_022725.4:c.866_868dup MANE Select | NP_073562.1:p.Leu289_Gln290insLeu |