Linked Data
dbSNP Id:
rs973095042
gnomAD v2:
8-19796965-C-CCCT
gnomAD v3:
8-19939454-C-CCCT
gnomAD v4:
8-19939454-C-CCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19939455_19939457dup , CM000670.2:g.19939455_19939457dup | GRCh38 |
| NC_000008.10:g.19796966_19796968dup , CM000670.1:g.19796966_19796968dup | GRCh37 |
| NC_000008.9:g.19841246_19841248dup | NCBI36 |
| NG_008855.1:g.5385_5387dup | |
| NG_008855.2:g.42739_42741dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.15_17dup MANE Select | ENSP00000497642.1:p.Leu6_Leu7insLeu | |
| ENST00000311322.8:c.15_17dup | ENSP00000309757.6:p.Leu6_Leu7insLeu | |
| ENST00000519773.1:c.15_17dup | ENSP00000431028.1:p.Leu6_Leu7insLeu | |
| ENST00000520959.5:c.-140-8725_-140-8723dup | ENSP00000428496.1:n.-140-8725_-140-8723dup | |
| ENST00000521994.1:n.200_202dup | ||
| ENST00000522701.5:c.15_17dup | ENSP00000428557.1:p.Leu6_Leu7insLeu | |
| ENST00000523696.1:n.84_86dup | ||
| ENST00000524029.5:c.15_17dup | ENSP00000428237.1:p.Leu6_Leu7insLeu | |
| NM_000237.2:c.15_17dup | NP_000228.1:p.Leu6_Leu7insLeu | |
| NM_000237.3:c.15_17dup MANE Select | NP_000228.1:p.Leu6_Leu7insLeu |