Linked Data
ClinVar Variation Id:
516177
ClinVar RCV Id:
RCV000610959
dbSNP Id:
rs34228277
ExAC:
1:103380379 T / TA
gnomAD v2:
1-103380379-T-TA
gnomAD v3:
1-102914823-T-TA
gnomAD v4:
1-102914823-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102914836dup , CM000663.2:g.102914836dup | GRCh38 |
| NC_000001.10:g.103380392dup , CM000663.1:g.103380392dup | GRCh37 |
| NC_000001.9:g.103152980dup | NCBI36 |
| NG_008033.1:g.198673dup | |
| NG_008033.2:g.198673dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370096.9:c.3817-13dup MANE Select | ENSP00000359114.3:n.3817-13dup | |
| ENST00000353414.8:c.3700-13dup | ENSP00000302551.6:n.3700-13dup | |
| ENST00000358392.6:c.3853-13dup | ENSP00000351163.2:n.3853-13dup | |
| ENST00000370096.7:c.3817-13dup | ENSP00000359114.3:n.3817-13dup | |
| ENST00000512756.5:c.3469-13dup | ENSP00000426533.1:n.3469-13dup | |
| ENST00000635193.1:c.3151-13dup | ||
| NM_001190709.1:c.3700-13dup | NP_001177638.1:n.3700-13dup | |
| NM_001854.3:c.3817-13dup | NP_001845.3:n.3817-13dup | |
| NM_080629.2:c.3853-13dup | NP_542196.2:n.3853-13dup | |
| NM_080630.3:c.3469-13dup | NP_542197.3:n.3469-13dup | |
| XM_011540719.1:c.3817-13dup | XP_011539021.1:n.3817-13dup | |
| XM_011540720.1:c.2050-13dup | XP_011539022.1:n.2050-13dup | |
| XM_011540721.1:c.1405-13dup | XP_011539023.1:n.1405-13dup | |
| NR_134980.1:n.4151-13dup | ||
| XM_017000334.1:c.3970-13dup | XP_016855823.1:n.3970-13dup | |
| XM_017000335.1:c.3964-13dup | XP_016855824.1:n.3964-13dup | |
| XM_017000336.1:c.3970-13dup | XP_016855825.1:n.3970-13dup | |
| XM_017000337.1:c.2368-13dup | XP_016855826.1:n.2368-13dup | |
| NM_001854.4:c.3817-13dup MANE Select | NP_001845.3:n.3817-13dup | |
| NM_080630.4:c.3469-13dup | NP_542197.3:n.3469-13dup | |
| NR_134980.2:n.4177-13dup | ||
| NM_001190709.2:c.3700-13dup | NP_001177638.1:n.3700-13dup | |
| NM_080629.3:c.3853-13dup | NP_542196.2:n.3853-13dup |