Linked Data
dbSNP Id:
rs1057519346
gnomAD v4:
19-40700388-T-TGTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40700391_40700393dup , CM000681.2:g.40700391_40700393dup | GRCh38 |
| NC_000019.9:g.41206296_41206298dup , CM000681.1:g.41206296_41206298dup | GRCh37 |
| NC_000019.8:g.45898136_45898138dup | NCBI36 |
| NG_027800.1:g.21495_21497dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.954_956dup MANE Select | ENSP00000315118.3:p.Thr319_Arg320insThr | |
| ENST00000593724.2:n.2777_2779dup | ||
| ENST00000594490.6:c.876_878dup | ENSP00000471310.2:p.Thr293_Arg294insThr | |
| ENST00000594720.6:c.954_956dup | ENSP00000470876.2:p.Thr319_Arg320insThr | |
| ENST00000596455.6:n.1246_1248dup | ||
| ENST00000601967.6:c.954_956dup | ENSP00000470916.2:p.Thr319_Arg320insThr | |
| ENST00000676555.1:c.954_956dup | ENSP00000503387.1:p.Thr319_Arg320insThr | |
| ENST00000676578.1:c.*696_*698dup | ENSP00000504076.1:n.*696_*698dup | |
| ENST00000676960.1:n.1079_1081dup | ||
| ENST00000676962.1:n.1233_1235dup | ||
| ENST00000677018.1:c.954_956dup | ENSP00000503480.1:p.Thr319_Arg320insThr | |
| ENST00000677039.1:n.3157_3159dup | ||
| ENST00000677399.1:n.1396_1398dup | ||
| ENST00000677496.1:c.627_629dup | ENSP00000504773.1:p.Thr210_Arg211insThr | |
| ENST00000677517.1:c.627_629dup | ENSP00000503519.1:p.Thr210_Arg211insThr | |
| ENST00000677633.1:c.*377_*379dup | ENSP00000503645.1:n.*377_*379dup | |
| ENST00000677800.1:c.*4058_*4060dup | ENSP00000503794.1:n.*4058_*4060dup | |
| ENST00000678057.1:c.*518_*520dup | ENSP00000503762.1:n.*518_*520dup | |
| ENST00000678119.1:n.1148_1150dup | ||
| ENST00000678166.1:n.1097_1099dup | ||
| ENST00000678312.1:n.1291_1293dup | ||
| ENST00000678316.1:c.*377_*379dup | ENSP00000504112.1:n.*377_*379dup | |
| ENST00000678371.1:n.1404_1406dup | ||
| ENST00000678404.1:c.954_956dup | ENSP00000503944.1:p.Thr319_Arg320insThr | |
| ENST00000678419.1:c.954_956dup | ENSP00000504085.1:p.Thr319_Arg320insThr | |
| ENST00000678433.1:n.1310_1312dup | ||
| ENST00000678467.1:c.954_956dup | ENSP00000504072.1:p.Thr319_Arg320insThr | |
| ENST00000678569.1:c.950_952dup | ENSP00000504261.1:p.Arg317_His318insArg | |
| ENST00000678961.1:n.1309_1311dup | ||
| ENST00000679002.1:n.1133_1135dup | ||
| ENST00000679012.1:c.510_512dup | ENSP00000504446.1:p.Thr171_Arg172insThr | |
| ENST00000679070.1:c.*373_*375dup | ENSP00000503759.1:n.*373_*375dup | |
| ENST00000679130.1:c.954_956dup | ENSP00000504845.1:p.Thr319_Arg320insThr | |
| ENST00000679315.1:c.*784_*786dup | ENSP00000503065.1:n.*784_*786dup | |
| ENST00000243583.10:c.831_833dup | ENSP00000243583.5:p.Thr278_Arg279insThr | |
| ENST00000324464.7:c.954_956dup | ENSP00000315118.3:p.Thr319_Arg320insThr | |
| ENST00000593724.1:n.1069_1071dup | ||
| NM_001142555.2:c.831_833dup | NP_001136027.1:p.Thr278_Arg279insThr | |
| NM_024876.3:c.954_956dup | NP_079152.3:p.Thr319_Arg320insThr | |
| XM_005259270.3:c.1116_1118dup | XP_005259327.2:p.Thr373_Arg374insThr | |
| XM_005259271.3:c.954_956dup | XP_005259328.1:p.Thr319_Arg320insThr | |
| XM_005259272.3:c.954_956dup | XP_005259329.1:p.Thr319_Arg320insThr | |
| XM_005259273.3:c.954_956dup | XP_005259330.1:p.Thr319_Arg320insThr | |
| XM_006723392.2:c.954_956dup | XP_006723455.1:p.Thr319_Arg320insThr | |
| XM_006723393.2:c.954_956dup | XP_006723456.1:p.Thr319_Arg320insThr | |
| XM_011527334.1:c.954_956dup | XP_011525636.1:p.Thr319_Arg320insThr | |
| XM_011527335.1:c.813_815dup | XP_011525637.1:p.Thr272_Arg273insThr | |
| XM_011527336.1:c.984_986dup | XP_011525638.1:p.Thr329_Arg330insThr | |
| XM_011527337.1:c.954_956dup | XP_011525639.1:p.Thr319_Arg320insThr | |
| XM_011527338.1:c.954_956dup | XP_011525640.1:p.Thr319_Arg320insThr | |
| NM_024876.4:c.954_956dup MANE Select | NP_079152.3:p.Thr319_Arg320insThr | |
| NM_001142555.3:c.831_833dup | NP_001136027.1:p.Thr278_Arg279insThr |