Linked Data
dbSNP Id:
rs1740256878
gnomAD v3:
3-185813929-C-CACTTTT
gnomAD v4:
3-185813929-C-CACTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185813929_185813930insACTTTT , CM000665.2:g.185813929_185813930insACTTTT | GRCh38 |
| NC_000003.11:g.185531717_185531718insACTTTT , CM000665.1:g.185531717_185531718insACTTTT | GRCh37 |
| NC_000003.10:g.187014411_187014412insACTTTT | NCBI36 |
| NG_011602.1:g.16110_16111insAAAAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382199.7:c.239+9223_239+9224insAAAAGT MANE Select | ENSP00000371634.3:n.239+9223_239+9224insAAAAGT | |
| ENST00000346192.7:c.239+9223_239+9224insAAAAGT | ENSP00000320204.5:n.239+9223_239+9224insAAAAGT | |
| ENST00000382199.6:c.239+9223_239+9224insAAAAGT | ENSP00000371634.2:n.239+9223_239+9224insAAAAGT | |
| ENST00000421047.3:c.50+7082_50+7083insAAAAGT | ENSP00000413787.3:n.50+7082_50+7083insAAAAGT | |
| ENST00000457616.6:c.239+9223_239+9224insAAAAGT | ENSP00000410242.2:n.239+9223_239+9224insAAAAGT | |
| ENST00000461957.5:n.119+9223_119+9224insAAAAGT | ||
| ENST00000466476.1:n.171+9223_171+9224insAAAAGT | ||
| ENST00000493302.5:n.120+7082_120+7083insAAAAGT | ||
| NM_001007225.1:c.239+9223_239+9224insAAAAGT | NP_001007226.1:n.239+9223_239+9224insAAAAGT | |
| NM_001291869.1:c.239+9223_239+9224insAAAAGT | NP_001278798.1:n.239+9223_239+9224insAAAAGT | |
| NM_001291872.1:c.50+7082_50+7083insAAAAGT | NP_001278801.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291873.1:c.50+7082_50+7083insAAAAGT | NP_001278802.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291874.1:c.50+7082_50+7083insAAAAGT | NP_001278803.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291875.1:c.-106+7082_-106+7083insAAAAGT | NP_001278804.1:n.-106+7082_-106+7083insAAAAGT | |
| NM_006548.4:c.239+9223_239+9224insAAAAGT | NP_006539.3:n.239+9223_239+9224insAAAAGT | |
| XM_011512338.1:c.239+9223_239+9224insAAAAGT | XP_011510640.1:n.239+9223_239+9224insAAAAGT | |
| XM_011512339.1:c.239+9223_239+9224insAAAAGT | XP_011510641.1:n.239+9223_239+9224insAAAAGT | |
| XM_011512341.1:c.239+9223_239+9224insAAAAGT | XP_011510643.1:n.239+9223_239+9224insAAAAGT | |
| XR_427358.2:n.318+9223_318+9224insAAAAGT | ||
| NM_001007225.2:c.239+9223_239+9224insAAAAGT | NP_001007226.1:n.239+9223_239+9224insAAAAGT | |
| NM_001291869.2:c.239+9223_239+9224insAAAAGT | NP_001278798.1:n.239+9223_239+9224insAAAAGT | |
| NM_001291872.2:c.50+7082_50+7083insAAAAGT | NP_001278801.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291873.2:c.50+7082_50+7083insAAAAGT | NP_001278802.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291874.2:c.50+7082_50+7083insAAAAGT | NP_001278803.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291875.2:c.-106+7082_-106+7083insAAAAGT | NP_001278804.1:n.-106+7082_-106+7083insAAAAGT | |
| NM_006548.5:c.239+9223_239+9224insAAAAGT | NP_006539.3:n.239+9223_239+9224insAAAAGT | |
| NR_138486.1:n.335+9223_335+9224insAAAAGT | ||
| XM_017005557.2:c.178+10853_178+10854insAAAAGT | XP_016861046.1:n.178+10853_178+10854insAAAAGT | |
| XM_017005558.2:c.239+9223_239+9224insAAAAGT | XP_016861047.1:n.239+9223_239+9224insAAAAGT | |
| XM_017005559.2:c.239+9223_239+9224insAAAAGT | XP_016861048.1:n.239+9223_239+9224insAAAAGT | |
| XM_017005560.2:c.35+9223_35+9224insAAAAGT | XP_016861049.1:n.35+9223_35+9224insAAAAGT | |
| XM_017005561.1:c.239+9223_239+9224insAAAAGT | XP_016861050.1:n.239+9223_239+9224insAAAAGT | |
| XM_017005562.1:c.239+9223_239+9224insAAAAGT | XP_016861051.1:n.239+9223_239+9224insAAAAGT | |
| XM_017005563.1:c.239+9223_239+9224insAAAAGT | XP_016861052.1:n.239+9223_239+9224insAAAAGT | |
| XM_017005564.1:c.239+9223_239+9224insAAAAGT | XP_016861053.1:n.239+9223_239+9224insAAAAGT | |
| XM_024453316.1:c.-170+10853_-170+10854insAAAAGT | XP_024309084.1:n.-170+10853_-170+10854insAAAAGT | |
| XR_001739984.2:n.324+9223_324+9224insAAAAGT | ||
| NM_001007225.3:c.239+9223_239+9224insAAAAGT | NP_001007226.1:n.239+9223_239+9224insAAAAGT | |
| NM_001291869.3:c.239+9223_239+9224insAAAAGT | NP_001278798.1:n.239+9223_239+9224insAAAAGT | |
| NM_001291872.3:c.50+7082_50+7083insAAAAGT | NP_001278801.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291874.3:c.50+7082_50+7083insAAAAGT | NP_001278803.1:n.50+7082_50+7083insAAAAGT | |
| NM_001291875.3:c.-106+7082_-106+7083insAAAAGT | NP_001278804.1:n.-106+7082_-106+7083insAAAAGT | |
| NM_006548.6:c.239+9223_239+9224insAAAAGT MANE Select | NP_006539.3:n.239+9223_239+9224insAAAAGT | |
| NR_138486.2:n.321+9223_321+9224insAAAAGT | ||
| NM_001291873.3:c.50+7082_50+7083insAAAAGT | NP_001278802.1:n.50+7082_50+7083insAAAAGT |