Linked Data
ClinVar Variation Id:
801357
ClinVar RCV Id:
RCV000986117
dbSNP Id:
rs540751366
ExAC:
5:74722305 T / TA
gnomAD v2:
5-74722305-T-TA
gnomAD v3:
5-75426480-T-TA
gnomAD v4:
5-75426480-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75426490dup , CM000667.2:g.75426490dup | GRCh38 |
| NC_000005.9:g.74722315dup , CM000667.1:g.74722315dup | GRCh37 |
| NC_000005.8:g.74758071dup | NCBI36 |
| NG_029492.1:g.90501dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647512.2:n.779-3dup | ||
| ENST00000261415.12:c.349-3dup | ENSP00000261415.8:n.349-3dup | |
| ENST00000380494.10:c.141-3dup | ||
| ENST00000405807.10:c.733-3dup | ENSP00000383996.4:n.733-3dup | |
| ENST00000642225.1:c.349-3dup | ENSP00000493604.1:n.349-3dup | |
| ENST00000642556.1:c.349-3dup | ENSP00000496016.1:n.349-3dup | |
| ENST00000642809.1:c.349-3dup | ENSP00000494804.1:n.349-3dup | |
| ENST00000643158.1:c.349-3dup | ENSP00000496462.1:n.349-3dup | |
| ENST00000643773.1:c.-48-3dup | ENSP00000493565.1:n.-48-3dup | |
| ENST00000643780.2:c.349-3dup MANE Select | ENSP00000495760.1:n.349-3dup | |
| ENST00000644072.2:c.349-3dup | ENSP00000494110.2:n.349-3dup | |
| ENST00000644377.1:c.349-3dup | ENSP00000494810.1:n.349-3dup | |
| ENST00000644445.1:c.349-3dup | ENSP00000496243.1:n.349-3dup | |
| ENST00000644516.1:c.349-3dup | ENSP00000495430.1:n.349-3dup | |
| ENST00000644912.1:c.349-3dup | ENSP00000495172.1:n.349-3dup | |
| ENST00000645483.1:c.349-3dup | ENSP00000493563.1:n.349-3dup | |
| ENST00000645866.1:c.349-3dup | ENSP00000494424.1:n.349-3dup | |
| ENST00000646302.1:c.349-3dup | ENSP00000496472.1:n.349-3dup | |
| ENST00000646511.1:c.349-3dup | ENSP00000495446.1:n.349-3dup | |
| ENST00000646713.1:c.349-3dup | ENSP00000494968.1:n.349-3dup | |
| ENST00000647512.1:n.562-3dup | ||
| ENST00000261415.11:c.349-3dup | ENSP00000261415.7:n.349-3dup | |
| ENST00000380494.9:c.733-3dup | ENSP00000369862.4:n.733-3dup | |
| ENST00000405807.8:c.349-3dup | ENSP00000383996.3:n.349-3dup | |
| NM_001130105.1:c.733-3dup | NP_001123577.1:n.733-3dup | |
| NM_005713.2:c.349-3dup | NP_005704.1:n.349-3dup | |
| NM_031361.2:c.349-3dup | NP_112729.1:n.349-3dup | |
| XM_006714513.1:c.349-3dup | XP_006714576.1:n.349-3dup | |
| XM_011543090.1:c.349-3dup | XP_011541392.1:n.349-3dup | |
| XM_011543091.1:c.349-3dup | XP_011541393.1:n.349-3dup | |
| XM_006714513.3:c.349-3dup | XP_006714576.1:n.349-3dup | |
| XM_011543090.3:c.349-3dup | XP_011541392.1:n.349-3dup | |
| XM_011543091.3:c.349-3dup | XP_011541393.1:n.349-3dup | |
| XM_017008919.2:c.349-3dup | XP_016864408.1:n.349-3dup | |
| NM_005713.3:c.349-3dup | NP_005704.1:n.349-3dup | |
| NM_031361.3:c.349-3dup | NP_112729.1:n.349-3dup | |
| NM_001379002.1:c.349-3dup | NP_001365931.1:n.349-3dup | |
| NM_001379003.1:c.349-3dup | NP_001365932.1:n.349-3dup | |
| NM_001379004.1:c.349-3dup | NP_001365933.1:n.349-3dup | |
| NM_001379029.1:c.349-3dup MANE Select | NP_001365958.1:n.349-3dup |