Linked Data
ClinVar Variation Id:
1988041
ClinVar RCV Id:
RCV002790241
dbSNP Id:
rs752380814
ExAC:
3:4418001 T / TGACA
gnomAD v2:
3-4418001-T-TGACA
gnomAD v4:
3-4376317-T-TGACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.4376318_4376321dup , CM000665.2:g.4376318_4376321dup | GRCh38 |
| NC_000003.11:g.4418002_4418005dup , CM000665.1:g.4418002_4418005dup | GRCh37 |
| NC_000003.10:g.4393002_4393005dup | NCBI36 |
| NG_016225.1:g.95962_95965dup | |
| NG_016225.2:g.95962_95965dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272902.10:c.1014+9_1014+12dup MANE Select | ENSP00000272902.5:n.1014+9_1014+12dup | |
| ENST00000272902.9:c.1014+9_1014+12dup | ENSP00000272902.5:n.1014+9_1014+12dup | |
| ENST00000383843.9:c.939+9_939+12dup | ENSP00000373355.5:n.939+9_939+12dup | |
| ENST00000405420.2:c.955-14067_955-14064dup | ENSP00000384977.2:n.955-14067_955-14064dup | |
| ENST00000448413.5:c.1014+9_1014+12dup | ENSP00000404384.1:n.1014+9_1014+12dup | |
| ENST00000458465.6:c.618+9_618+12dup | ENSP00000410060.2:n.618+9_618+12dup | |
| NM_001164674.1:c.939+9_939+12dup | NP_001158146.1:n.939+9_939+12dup | |
| NM_001164675.1:c.955-14067_955-14064dup | NP_001158147.1:n.955-14067_955-14064dup | |
| NM_182760.3:c.1014+9_1014+12dup | NP_877437.2:n.1014+9_1014+12dup | |
| XM_011533623.1:c.1014+9_1014+12dup | XP_011531925.1:n.1014+9_1014+12dup | |
| XM_011533624.1:c.1014+9_1014+12dup | XP_011531926.1:n.1014+9_1014+12dup | |
| XM_011533625.1:c.1014+9_1014+12dup | XP_011531927.1:n.1014+9_1014+12dup | |
| XM_011533626.1:c.1014+9_1014+12dup | XP_011531928.1:n.1014+9_1014+12dup | |
| XM_011533624.3:c.1014+9_1014+12dup | XP_011531926.1:n.1014+9_1014+12dup | |
| XM_011533625.3:c.1014+9_1014+12dup | XP_011531927.1:n.1014+9_1014+12dup | |
| XM_011533626.3:c.1014+9_1014+12dup | XP_011531928.1:n.1014+9_1014+12dup | |
| XM_017006252.2:c.954+34544_954+34547dup | XP_016861741.1:n.954+34544_954+34547dup | |
| XM_017006253.1:c.939+9_939+12dup | XP_016861742.1:n.939+9_939+12dup | |
| XM_017006254.2:c.1014+9_1014+12dup | XP_016861743.1:n.1014+9_1014+12dup | |
| XM_017006255.2:c.1014+9_1014+12dup | XP_016861744.1:n.1014+9_1014+12dup | |
| NM_182760.4:c.1014+9_1014+12dup MANE Select | NP_877437.2:n.1014+9_1014+12dup | |
| NM_001164674.2:c.939+9_939+12dup | NP_001158146.1:n.939+9_939+12dup | |
| NM_001164675.2:c.955-14067_955-14064dup | NP_001158147.1:n.955-14067_955-14064dup |