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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45991601_45991602insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC , CM000679.2:g.45991601_45991602insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | GRCh38 |
| NC_000017.10:g.44068967_44068968insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC , CM000679.1:g.44068967_44068968insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | GRCh37 |
| NC_000017.9:g.41424804_41424805insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | NCBI36 |
| NG_007398.1:g.102181_102182insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | |
| NG_007398.2:g.102139_102140insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000703922.1:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000703923.1:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000703924.1:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000703978.1:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000703979.1:n.420+15_420+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000262410.10:c.1732+15_1732+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000344290.10:c.1534+15_1534+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000351559.10:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000535772.6:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000680542.1:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000680674.1:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000262410.9:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000334239.12:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000340799.9:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000344290.9:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000351559.9:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000415613.6:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000420682.6:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000431008.7:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000446361.7:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000535772.5:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000570299.5:n.510+15_510+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000571987.5:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000574436.5:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| ENST00000576518.1:n.5841+15_5841+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001123066.3:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001123067.3:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001203251.1:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001203252.1:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_005910.5:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_016834.4:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_016835.4:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_016841.4:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257362.3:c.1819+15_1819+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257364.3:c.1732+15_1732+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257365.3:c.1819+15_1819+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257366.2:c.1645+15_1645+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257367.3:c.1621+15_1621+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257368.3:c.1621+15_1621+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257369.3:c.754+15_754+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257370.3:c.667+15_667+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257371.3:c.580+15_580+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257362.4:c.1819+15_1819+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257364.4:c.1732+15_1732+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257365.4:c.1819+15_1819+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257366.3:c.1645+15_1645+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257367.4:c.1621+15_1621+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257368.4:c.1621+15_1621+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257369.4:c.754+15_754+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257370.4:c.667+15_667+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| XM_005257371.4:c.580+15_580+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001203251.2:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001377265.1:c.1732+15_1732+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001377266.1:c.1534+15_1534+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001377267.1:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001377268.1:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_016834.5:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_016841.5:c.382+15_382+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NR_165166.1:n.590+44_590+45insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001123066.4:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001123067.4:c.469+15_469+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_001203252.2:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_005910.6:c.556+15_556+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC | ||
| NM_016835.5:c.1507+15_1507+16insACTTCCTCTAAGATTCAAGAGAACGTTCTTCTTGACACCACCCAGCTCTGGTAAGAAGAACGTTC |