Linked Data
gnomAD v4:
11-47333706-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333710dup , CM000673.2:g.47333710dup | GRCh38 |
| NC_000011.9:g.47355261dup , CM000673.1:g.47355261dup | GRCh37 |
| NC_000011.8:g.47311837dup | NCBI36 |
| NG_007667.1:g.23996dup , LRG_386:g.23996dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3040dup MANE Select | ENSP00000442795.1:p.Leu1014ProfsTer? | |
| ENST00000256993.8:c.3040dup | ENSP00000256993.5:p.Leu1014ProfsTer? | |
| ENST00000399249.6:c.3040dup | ENSP00000382193.2:p.Leu1014ProfsTer? | |
| ENST00000545968.5:c.3040dup | ENSP00000442795.1:p.Leu1014ProfsTer? | |
| NM_000256.3:c.3040dup , LRG_386t1:c.3040dup MANE Select | NP_000247.2:p.Leu1014ProfsTer? | |
| XM_011520117.1:c.3022dup | XP_011518419.1:p.Leu1008ProfsTer? | |
| XM_011520118.1:c.2959dup | XP_011518420.1:p.Leu987ProfsTer? |