Linked Data
ClinVar Variation Id:
476759
dbSNP Id:
rs150213018
ExAC:
7:30634582 T / TCTG
gnomAD v2:
7-30634582-T-TCTG
gnomAD v3:
7-30594966-T-TCTG
gnomAD v4:
7-30594966-T-TCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30594980_30594982dup , CM000669.2:g.30594980_30594982dup | GRCh38 |
| NC_000007.13:g.30634596_30634598dup , CM000669.1:g.30634596_30634598dup | GRCh37 |
| NC_000007.12:g.30601121_30601123dup | NCBI36 |
| NG_007942.1:g.5416_5418dup , LRG_243:g.5416_5418dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389266.8:c.59_61dup MANE Select | ENSP00000373918.3:p.Leu20_Pro21insLeu | |
| ENST00000444666.6:c.59_61dup | ENSP00000415447.2:p.Leu20_Pro21insLeu | |
| ENST00000454308.6:c.59_61dup | ENSP00000392677.2:p.Leu20_Pro21insLeu | |
| ENST00000470392.2:n.149_151dup | ||
| ENST00000478124.6:n.122_124dup | ||
| ENST00000485784.2:n.138_140dup | ||
| ENST00000674616.1:c.59_61dup | ENSP00000502408.1:p.Leu20_Pro21insLeu | |
| ENST00000674643.1:c.59_61dup | ENSP00000501636.1:p.Leu20_Pro21insLeu | |
| ENST00000674737.1:c.59_61dup | ENSP00000502464.1:p.Leu20_Pro21insLeu | |
| ENST00000674807.1:c.59_61dup | ENSP00000502814.1:p.Leu20_Pro21insLeu | |
| ENST00000674815.1:c.-148+28_-148+30dup | ENSP00000502799.1:n.-148+28_-148+30dup | |
| ENST00000674851.1:c.-184+28_-184+30dup | ENSP00000502451.1:n.-184+28_-184+30dup | |
| ENST00000674969.1:n.99_101dup | ||
| ENST00000675051.1:c.22-3816_22-3814dup | ENSP00000502296.1:n.22-3816_22-3814dup | |
| ENST00000675529.1:c.59_61dup | ENSP00000501655.1:p.Leu20_Pro21insLeu | |
| ENST00000675587.1:n.75_77dup | ||
| ENST00000675651.1:c.59_61dup | ENSP00000502513.1:p.Leu20_Pro21insLeu | |
| ENST00000675693.1:c.18+41_18+43dup | ENSP00000502174.1:n.18+41_18+43dup | |
| ENST00000675810.1:c.59_61dup | ENSP00000502743.1:p.Leu20_Pro21insLeu | |
| ENST00000675859.1:c.59_61dup | ENSP00000502033.1:p.Leu20_Pro21insLeu | |
| ENST00000675863.1:n.67_69dup | ||
| ENST00000675886.1:n.87_89dup | ||
| ENST00000676088.1:c.59_61dup | ENSP00000501884.1:p.Leu20_Pro21insLeu | |
| ENST00000676140.1:c.59_61dup | ENSP00000502571.1:p.Leu20_Pro21insLeu | |
| ENST00000676164.1:c.59_61dup | ENSP00000501986.1:p.Leu20_Pro21insLeu | |
| ENST00000676210.1:c.59_61dup | ENSP00000502373.1:p.Leu20_Pro21insLeu | |
| ENST00000676259.1:c.59_61dup | ENSP00000501980.1:p.Leu20_Pro21insLeu | |
| ENST00000676403.1:c.59_61dup | ENSP00000502681.1:p.Leu20_Pro21insLeu | |
| ENST00000389266.7:c.59_61dup | ENSP00000373918.3:p.Leu20_Pro21insLeu | |
| ENST00000454308.5:c.59_61dup | ENSP00000392677.1:p.Leu20_Pro21insLeu | |
| ENST00000478124.5:n.97_99dup | ||
| ENST00000627489.1:c.59_61dup | ENSP00000485931.1:p.Leu20_Pro21insLeu | |
| NM_001316772.1:c.-104_-102dup | NP_001303701.1:n.-104_-102dup | |
| NM_002047.2:c.59_61dup , LRG_243t1:c.59_61dup | NP_002038.2:p.Leu20_Pro21insLeu | |
| NM_002047.3:c.59_61dup | NP_002038.2:p.Leu20_Pro21insLeu | |
| XM_006715686.2:c.-421_-419dup | XP_006715749.1:n.-421_-419dup | |
| NM_002047.4:c.59_61dup MANE Select | NP_002038.2:p.Leu20_Pro21insLeu |