Linked Data
ClinVar Variation Id:
1232164
ClinVar RCV Id:
RCV001612796
dbSNP Id:
rs113891803
ExAC:
13:100921082 T / TTTCA
gnomAD v2:
13-100921082-T-TTTCA
gnomAD v3:
13-100268828-T-TTTCA
gnomAD v4:
13-100268828-T-TTTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.100268850_100268853dup , CM000675.2:g.100268850_100268853dup | GRCh38 |
| NC_000013.10:g.100921104_100921107dup , CM000675.1:g.100921104_100921107dup | GRCh37 |
| NC_000013.9:g.99719105_99719108dup | NCBI36 |
| NG_008768.1:g.184768_184771dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376285.6:c.914+67_914+70dup MANE Select | ENSP00000365462.1:n.914+67_914+70dup | |
| ENST00000636366.1:c.793+67_793+70dup | ||
| ENST00000636420.1:c.793+67_793+70dup | ||
| ENST00000636475.1:c.793+67_793+70dup | ||
| ENST00000637657.1:c.793+67_793+70dup | ||
| ENST00000647303.1:c.*762+67_*762+70dup | ENSP00000495663.1:n.*762+67_*762+70dup | |
| ENST00000376279.7:c.914+67_914+70dup | ENSP00000365456.3:n.914+67_914+70dup | |
| ENST00000376285.5:c.914+67_914+70dup | ENSP00000365462.1:n.914+67_914+70dup | |
| ENST00000376286.8:c.836+67_836+70dup | ENSP00000365463.4:n.836+67_836+70dup | |
| NM_000282.3:c.914+67_914+70dup | NP_000273.2:n.914+67_914+70dup | |
| NM_001127692.2:c.836+67_836+70dup | NP_001121164.1:n.836+67_836+70dup | |
| NM_001178004.1:c.914+67_914+70dup | NP_001171475.1:n.914+67_914+70dup | |
| XM_005254059.2:c.914+67_914+70dup | XP_005254116.1:n.914+67_914+70dup | |
| XM_011521093.1:c.914+67_914+70dup | XP_011519395.1:n.914+67_914+70dup | |
| XR_931615.1:n.1015+67_1015+70dup | ||
| XR_931616.1:n.1015+67_1015+70dup | ||
| NM_001352605.1:c.914+67_914+70dup | NP_001339534.1:n.914+67_914+70dup | |
| NM_001352606.1:c.914+67_914+70dup | NP_001339535.1:n.914+67_914+70dup | |
| NM_001352607.1:c.836+67_836+70dup | NP_001339536.1:n.836+67_836+70dup | |
| NM_001352608.1:c.836+67_836+70dup | NP_001339537.1:n.836+67_836+70dup | |
| NM_001352609.1:c.914+67_914+70dup | NP_001339538.1:n.914+67_914+70dup | |
| NM_001352610.1:c.-32+67_-32+70dup | NP_001339539.1:n.-32+67_-32+70dup | |
| NM_001352611.1:c.-32+67_-32+70dup | NP_001339540.1:n.-32+67_-32+70dup | |
| NM_001352612.1:c.-32+67_-32+70dup | NP_001339541.1:n.-32+67_-32+70dup | |
| NR_148027.1:n.1020+67_1020+70dup | ||
| NR_148028.1:n.1020+67_1020+70dup | ||
| NR_148029.1:n.942+67_942+70dup | ||
| NR_148030.1:n.1020+67_1020+70dup | ||
| NR_148031.1:n.1020+67_1020+70dup | ||
| XM_017020605.1:c.914+67_914+70dup | XP_016876094.1:n.914+67_914+70dup | |
| XM_017020606.1:c.836+67_836+70dup | XP_016876095.1:n.836+67_836+70dup | |
| XM_017020607.1:c.815+67_815+70dup | XP_016876096.1:n.815+67_815+70dup | |
| XM_017020609.1:c.815+67_815+70dup | XP_016876098.1:n.815+67_815+70dup | |
| XM_017020611.1:c.914+67_914+70dup | XP_016876100.1:n.914+67_914+70dup | |
| XM_017020612.1:c.914+67_914+70dup | XP_016876101.1:n.914+67_914+70dup | |
| XM_017020613.1:c.914+67_914+70dup | XP_016876102.1:n.914+67_914+70dup | |
| XM_017020615.1:c.914+67_914+70dup | XP_016876104.1:n.914+67_914+70dup | |
| XM_017020616.1:c.914+67_914+70dup | XP_016876105.1:n.914+67_914+70dup | |
| XR_001749567.1:n.1015+67_1015+70dup | ||
| XR_001749568.1:n.1015+67_1015+70dup | ||
| XR_001749569.1:n.1015+67_1015+70dup | ||
| XR_001749574.1:n.866+67_866+70dup | ||
| XR_001749576.1:n.1015+67_1015+70dup | ||
| XR_001749577.1:n.1015+67_1015+70dup | ||
| NM_000282.4:c.914+67_914+70dup MANE Select | NP_000273.2:n.914+67_914+70dup | |
| NM_001352605.2:c.914+67_914+70dup | NP_001339534.1:n.914+67_914+70dup | |
| NM_001352606.2:c.914+67_914+70dup | NP_001339535.1:n.914+67_914+70dup | |
| NM_001352607.2:c.836+67_836+70dup | NP_001339536.1:n.836+67_836+70dup | |
| NM_001352608.2:c.836+67_836+70dup | NP_001339537.1:n.836+67_836+70dup | |
| NM_001352609.2:c.914+67_914+70dup | NP_001339538.1:n.914+67_914+70dup | |
| NM_001352610.2:c.-32+67_-32+70dup | NP_001339539.1:n.-32+67_-32+70dup | |
| NM_001352611.2:c.-32+67_-32+70dup | NP_001339540.1:n.-32+67_-32+70dup | |
| NM_001352612.2:c.-32+67_-32+70dup | NP_001339541.1:n.-32+67_-32+70dup | |
| NR_148027.2:n.942+67_942+70dup | ||
| NR_148028.2:n.942+67_942+70dup | ||
| NR_148029.2:n.864+67_864+70dup | ||
| NR_148030.2:n.942+67_942+70dup | ||
| NR_148031.2:n.942+67_942+70dup | ||
| NM_001127692.3:c.836+67_836+70dup | NP_001121164.1:n.836+67_836+70dup | |
| NM_001178004.2:c.914+67_914+70dup | NP_001171475.1:n.914+67_914+70dup |