UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
142922
ClinVar RCV Id:
RCV002514755
dbSNP Id:
rs80358336
gnomAD v4:
17-43092184-A-ACTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092189_43092191dup , CM000679.2:g.43092189_43092191dup | GRCh38 |
| NC_000017.10:g.41244206_41244208dup , CM000679.1:g.41244206_41244208dup | GRCh37 |
| NC_000017.9:g.38497732_38497734dup | NCBI36 |
| NG_005905.2:g.125797_125799dup , LRG_292:g.125797_125799dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3408_3410dup | ||
| ENST00000461574.2:c.3344_3346dup | ENSP00000417241.2:p.Glu1115_Val1116insGlu... | |
| ENST00000470026.6:c.3344_3346dup | ENSP00000419274.2:p.Glu1115_Val1116insGlu... | |
| ENST00000473961.6:c.3218_3220dup | ENSP00000420201.2:p.Glu1073_Val1074insGlu... | |
| ENST00000476777.6:c.3341_3343dup | ENSP00000417554.2:p.Glu1114_Val1115insGlu... | |
| ENST00000477152.6:c.3266_3268dup | ENSP00000419988.2:p.Glu1089_Val1090insGlu... | |
| ENST00000478531.6:c.785-1155_785-1153dup | ENSP00000420412.2:n.785-1155_785-1153dup | |
| ENST00000489037.2:c.3266_3268dup | ENSP00000420781.2:p.Glu1089_Val1090insGlu... | |
| ENST00000493919.6:c.647-1155_647-1153dup | ENSP00000418819.2:n.647-1155_647-1153dup | |
| ENST00000494123.6:c.3344_3346dup | ENSP00000419103.2:p.Glu1115_Val1116insGlu... | |
| ENST00000497488.2:c.2456_2458dup | ENSP00000418986.2:p.Glu819_Val820insGlu | |
| ENST00000618469.2:c.3344_3346dup | ENSP00000478114.2:p.Glu1115_Val1116insGlu... | |
| ENST00000634433.2:c.3221_3223dup | ENSP00000489431.2:p.Glu1074_Val1075insGlu... | |
| ENST00000644379.2:c.3344_3346dup | ENSP00000496570.2:p.Glu1115_Val1116insGlu... | |
| ENST00000644555.2:c.647-1155_647-1153dup | ENSP00000494614.2:n.647-1155_647-1153dup | |
| ENST00000652672.2:c.3203_3205dup | ENSP00000498906.2:p.Glu1068_Val1069insGlu... | |
| ENST00000484087.6:c.665-1155_665-1153dup | ENSP00000419481.2:n.665-1155_665-1153dup | |
| ENST00000700182.1:c.707-1155_707-1153dup | ENSP00000514849.1:n.707-1155_707-1153dup | |
| ENST00000357654.9:c.3344_3346dup MANE Select | ENSP00000350283.3:p.Glu1115_Val1116insGlu... | |
| ENST00000471181.7:c.3344_3346dup | ENSP00000418960.2:p.Glu1115_Val1116insGlu... | |
| ENST00000352993.7:c.671-1155_671-1153dup | ENSP00000312236.5:n.671-1155_671-1153dup | |
| ENST00000354071.7:c.3344_3346dup | ENSP00000326002.7:p.Glu1115_Val1116insGlu... | |
| ENST00000357654.7:c.3344_3346dup | ENSP00000350283.3:p.Glu1115_Val1116insGlu... | |
| ENST00000461221.5:c.*3127_*3129dup | ENSP00000418548.1:n.*3127_*3129dup | |
| ENST00000468300.5:c.788-1155_788-1153dup | ENSP00000417148.1:n.788-1155_788-1153dup | |
| ENST00000471181.6:c.3344_3346dup | ENSP00000418960.2:p.Glu1115_Val1116insGlu... | |
| ENST00000478531.5:c.785-1155_785-1153dup | ENSP00000420412.1:n.785-1155_785-1153dup | |
| ENST00000484087.5:c.410-1155_410-1153dup | ENSP00000419481.1:n.410-1155_410-1153dup | |
| ENST00000487825.5:c.413-1155_413-1153dup | ENSP00000418212.1:n.413-1155_413-1153dup | |
| ENST00000491747.6:c.788-1155_788-1153dup | ENSP00000420705.2:n.788-1155_788-1153dup | |
| ENST00000493795.5:c.3203_3205dup | ENSP00000418775.1:p.Glu1068_Val1069insGlu... | |
| ENST00000493919.5:c.647-1155_647-1153dup | ENSP00000418819.1:n.647-1155_647-1153dup | |
| ENST00000586385.5:c.5-28236_5-28234dup | ENSP00000465818.1:n.5-28236_5-28234dup | |
| ENST00000591534.5:c.-43-17666_-43-17664dup | ENSP00000467329.1:n.-43-17666_-43-17664du... | |
| ENST00000591849.5:c.-99+33084_-99+33086dup | ENSP00000465347.1:n.-99+33084_-99+33086du... | |
| NM_007294.3:c.3344_3346dup , LRG_292t1:c.3344_3346dup | NP_009225.1:p.Glu1115_Val1116insGlu | |
| NM_007297.3:c.3203_3205dup | NP_009228.2:p.Glu1068_Val1069insGlu | |
| NM_007298.3:c.788-1155_788-1153dup | NP_009229.2:n.788-1155_788-1153dup | |
| NM_007299.3:c.788-1155_788-1153dup | NP_009230.2:n.788-1155_788-1153dup | |
| NM_007300.3:c.3344_3346dup | NP_009231.2:p.Glu1115_Val1116insGlu | |
| NR_027676.1:n.3480_3482dup | ||
| NM_007294.4:c.3344_3346dup MANE Select | NP_009225.1:p.Glu1115_Val1116insGlu | |
| NM_007297.4:c.3203_3205dup | NP_009228.2:p.Glu1068_Val1069insGlu | |
| NM_007299.4:c.788-1155_788-1153dup | NP_009230.2:n.788-1155_788-1153dup | |
| NM_007300.4:c.3344_3346dup | NP_009231.2:p.Glu1115_Val1116insGlu | |
| NR_027676.2:n.3521_3523dup |