Linked Data
dbSNP Id:
rs578166625
gnomAD v2:
11-2484701-T-TG
gnomAD v3:
11-2463471-T-TG
gnomAD v4:
11-2463471-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2463477dup , CM000673.2:g.2463477dup | GRCh38 |
| NC_000011.9:g.2484707dup , CM000673.1:g.2484707dup | GRCh37 |
| NC_000011.8:g.2441283dup | NCBI36 |
| NG_008935.1:g.23487dup , LRG_287:g.23487dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380776.5:n.91+1500dup | ||
| ENST00000496887.7:c.125+17993dup | ENSP00000434560.2:n.125+17993dup | |
| ENST00000646564.2:c.386+17993dup | ENSP00000495806.2:n.386+17993dup | |
| ENST00000155840.12:c.386+17993dup MANE Select | ENSP00000155840.2:n.386+17993dup | |
| ENST00000335475.6:c.5+1763dup | ENSP00000334497.5:n.5+1763dup | |
| ENST00000646564.1:c.32+17993dup | ENSP00000495806.1:n.32+17993dup | |
| ENST00000155840.9:c.386+17993dup | ENSP00000155840.2:n.386+17993dup | |
| ENST00000335475.5:c.5+1763dup | ENSP00000334497.5:n.5+1763dup | |
| ENST00000345015.4:n.163+17993dup | ||
| ENST00000380776.4:c.84+1500dup | ENSP00000370153.4:n.84+1500dup | |
| ENST00000496887.6:c.125+17993dup | ENSP00000434560.1:n.125+17993dup | |
| NM_000218.2:c.386+17993dup , LRG_287t1:c.386+17993dup | NP_000209.2:n.386+17993dup | |
| NM_181798.1:c.5+1763dup , LRG_287t2:c.5+1763dup | NP_861463.1:n.5+1763dup | |
| NM_000218.3:c.386+17993dup MANE Select | NP_000209.2:n.386+17993dup |