Linked Data
ClinVar Variation Id:
355958
ClinVar RCV Id:
RCV000302364
dbSNP Id:
rs555440397
gnomAD v2:
6-15523053-C-CTT
gnomAD v3:
6-15522822-C-CTT
gnomAD v4:
6-15522822-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15522824_15522825dup , CM000668.2:g.15522824_15522825dup | GRCh38 |
| NC_000006.11:g.15523055_15523056dup , CM000668.1:g.15523055_15523056dup | GRCh37 |
| NC_000006.10:g.15631034_15631035dup | NCBI36 |
| NG_009309.1:g.145217_145218dup , LRG_588:g.145217_145218dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.*151_*152dup MANE Select | ENSP00000341680.6:n.*151_*152dup | |
| ENST00000344537.9:c.*151_*152dup | ENSP00000341680.5:n.*151_*152dup | |
| ENST00000355917.7:c.*151_*152dup | ENSP00000348183.4:n.*151_*152dup | |
| ENST00000462989.6:c.*151_*152dup | ENSP00000427239.1:n.*151_*152dup | |
| ENST00000510395.5:c.*1117_*1118dup | ENSP00000424685.1:n.*1117_*1118dup | |
| ENST00000622898.4:c.*151_*152dup | ENSP00000481997.1:n.*151_*152dup | |
| NM_001271667.1:c.*151_*152dup | NP_001258596.1:n.*151_*152dup | |
| NM_001271668.1:c.*151_*152dup | NP_001258597.1:n.*151_*152dup | |
| NM_001271669.1:c.*151_*152dup | NP_001258598.1:n.*151_*152dup | |
| NM_032122.4:c.*151_*152dup , LRG_588t1:c.*151_*152dup | NP_115498.2:n.*151_*152dup | |
| XM_005249447.3:c.*151_*152dup | XP_005249504.1:n.*151_*152dup | |
| XM_011514936.1:c.*151_*152dup | XP_011513238.1:n.*151_*152dup | |
| XM_011514937.1:c.*151_*152dup | XP_011513239.1:n.*151_*152dup | |
| XM_005249447.4:c.*151_*152dup | XP_005249504.1:n.*151_*152dup | |
| XM_011514936.3:c.*151_*152dup | XP_011513238.1:n.*151_*152dup | |
| XM_011514937.2:c.*151_*152dup | XP_011513239.1:n.*151_*152dup | |
| XM_017011348.1:c.*151_*152dup | XP_016866837.1:n.*151_*152dup | |
| XM_017011349.1:c.*151_*152dup | XP_016866838.1:n.*151_*152dup | |
| XM_024446567.1:c.*151_*152dup | XP_024302335.1:n.*151_*152dup | |
| NM_032122.5:c.*151_*152dup MANE Select | NP_115498.2:n.*151_*152dup | |
| NM_001271667.2:c.*151_*152dup | NP_001258596.1:n.*151_*152dup | |
| NM_001271668.2:c.*151_*152dup | NP_001258597.1:n.*151_*152dup | |
| NM_001271669.2:c.*151_*152dup | NP_001258598.1:n.*151_*152dup |