Linked Data
dbSNP Id:
rs1399317715
gnomAD v2:
11-61213886-C-CA
gnomAD v3:
11-61446414-C-CA
gnomAD v4:
11-61446414-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61446417dup , CM000673.2:g.61446417dup | GRCh38 |
| NC_000011.9:g.61213889dup , CM000673.1:g.61213889dup | GRCh37 |
| NC_000011.8:g.60970465dup | NCBI36 |
| NG_023393.1:g.21293dup , LRG_519:g.21293dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301761.7:c.*346dup MANE Select | ENSP00000301761.3:n.*346dup | |
| ENST00000301761.6:c.*346dup | ENSP00000301761.2:n.*346dup | |
| ENST00000536670.5:n.396+8304dup | ||
| ENST00000538594.5:c.370+8304dup | ENSP00000440939.1:n.370+8304dup | |
| ENST00000541135.5:c.377+8297dup | ENSP00000443130.1:n.377+8297dup | |
| ENST00000542074.1:c.*426dup | ENSP00000469670.1:n.*426dup | |
| ENST00000543044.2:c.*160+186dup | ENSP00000440219.1:n.*160+186dup | |
| ENST00000544025.5:n.465+8304dup | ||
| ENST00000544801.5:c.370+8304dup | ENSP00000442581.1:n.370+8304dup | |
| ENST00000544880.1:n.374+8304dup | ||
| NM_017841.2:c.*346dup , LRG_519t1:c.*346dup | NP_060311.1:n.*346dup | |
| NM_017841.4:c.*346dup MANE Select | NP_060311.1:n.*346dup |