Linked Data
ClinVar Variation Id:
323742
ClinVar RCV Id:
RCV000261190
dbSNP Id:
rs140510364
gnomAD v2:
17-44107606-A-ATT
gnomAD v3:
17-46030240-A-ATT
gnomAD v4:
17-46030240-A-ATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46030248_46030249dup , CM000679.2:g.46030248_46030249dup | GRCh38 |
| NC_000017.10:g.44107614_44107615dup , CM000679.1:g.44107614_44107615dup | GRCh37 |
| NC_000017.9:g.41463461_41463462dup | NCBI36 |
| NG_007398.1:g.140838_140839dup | |
| NG_032784.1:g.200133_200134dup | |
| NG_007398.2:g.140786_140787dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432791.7:c.*1234_*1235dup MANE Select | ENSP00000387393.3:n.*1234_*1235dup | |
| ENST00000572904.6:c.*1234_*1235dup | ENSP00000461484.1:n.*1234_*1235dup | |
| ENST00000574590.6:c.*1234_*1235dup | ENSP00000461812.2:n.*1234_*1235dup | |
| ENST00000575318.6:c.*1234_*1235dup | ENSP00000461299.1:n.*1234_*1235dup | |
| ENST00000638275.1:c.*1234_*1235dup | ENSP00000492576.1:n.*1234_*1235dup | |
| ENST00000648792.1:c.*1234_*1235dup | ENSP00000497628.1:n.*1234_*1235dup | |
| ENST00000262419.10:c.*1234_*1235dup | ENSP00000262419.6:n.*1234_*1235dup | |
| ENST00000432791.5:c.*1234_*1235dup | ENSP00000387393.2:n.*1234_*1235dup | |
| ENST00000572218.5:n.8769_8770dup | ||
| ENST00000572904.5:c.*1234_*1235dup | ENSP00000461484.1:n.*1234_*1235dup | |
| ENST00000574590.5:c.*1234_*1235dup | ENSP00000461812.1:n.*1234_*1235dup | |
| ENST00000575318.5:c.*1234_*1235dup | ENSP00000461299.1:n.*1234_*1235dup | |
| ENST00000576870.5:n.2524_2525dup | ||
| NM_001193465.1:c.*1234_*1235dup | NP_001180394.1:n.*1234_*1235dup | |
| NM_001193466.1:c.*1234_*1235dup | NP_001180395.1:n.*1234_*1235dup | |
| NM_015443.3:c.*1234_*1235dup | NP_056258.1:n.*1234_*1235dup | |
| XM_006721823.1:c.*1234_*1235dup | XP_006721886.1:n.*1234_*1235dup | |
| XM_006721824.2:c.*1234_*1235dup | XP_006721887.1:n.*1234_*1235dup | |
| XM_011524628.1:c.*1234_*1235dup | XP_011522930.1:n.*1234_*1235dup | |
| XM_011524629.1:c.*1234_*1235dup | XP_011522931.1:n.*1234_*1235dup | |
| XM_011524630.1:c.*1234_*1235dup | XP_011522932.1:n.*1234_*1235dup | |
| XM_011524631.1:c.*1234_*1235dup | XP_011522933.1:n.*1234_*1235dup | |
| XM_011524632.1:c.*1234_*1235dup | XP_011522934.1:n.*1234_*1235dup | |
| XM_006721823.2:c.*1234_*1235dup | XP_006721886.1:n.*1234_*1235dup | |
| XM_006721824.4:c.*1234_*1235dup | XP_006721887.1:n.*1234_*1235dup | |
| XM_011524628.3:c.*1234_*1235dup | XP_011522930.1:n.*1234_*1235dup | |
| XM_011524629.3:c.*1234_*1235dup | XP_011522931.1:n.*1234_*1235dup | |
| XM_011524630.3:c.*1234_*1235dup | XP_011522932.1:n.*1234_*1235dup | |
| XM_011524631.3:c.*1234_*1235dup | XP_011522933.1:n.*1234_*1235dup | |
| XM_011524632.3:c.*1234_*1235dup | XP_011522934.1:n.*1234_*1235dup | |
| XM_017024488.2:c.*1234_*1235dup | XP_016879977.1:n.*1234_*1235dup | |
| NM_001193466.2:c.*1234_*1235dup | NP_001180395.1:n.*1234_*1235dup | |
| NM_015443.4:c.*1234_*1235dup MANE Select | NP_056258.1:n.*1234_*1235dup | |
| NM_001193465.2:c.*1234_*1235dup | NP_001180394.1:n.*1234_*1235dup | |
| NM_001379198.1:c.*1234_*1235dup | NP_001366127.1:n.*1234_*1235dup |