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
dbSNP Id:
rs786205252
gnomAD v2:
8-145004319-C-CGGCCTCCTG
gnomAD v3:
8-143930151-C-CGGCCTCCTG
gnomAD v4:
8-143930151-C-CGGCCTCCTG
MyVariant Identifiers:
chr8:g.145004319_145004320insGGCCTCCTG (hg19)
chr8:g.143930151_143930152insGGCCTCCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143930162_143930170dup , CM000670.2:g.143930162_143930170dup | GRCh38 |
| NC_000008.10:g.145004330_145004338dup , CM000670.1:g.145004330_145004338dup | GRCh37 |
| NC_000008.9:g.145076318_145076326dup | NCBI36 |
| NG_012492.1:g.51586_51594dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528025.6:c.2728_2736dup | ENSP00000437303.2:p.Ala912_Val913insGlnGl... | |
| ENST00000685198.1:c.2647_2655dup | ENSP00000510528.1:p.Ala885_Val886insGlnGl... | |
| ENST00000687971.1:c.2314_2322dup | ENSP00000510788.1:p.Ala774_Val775insGlnGl... | |
| ENST00000693060.1:c.2527_2535dup | ENSP00000510329.1:p.Ala845_Val846insGlnGl... | |
| ENST00000345136.8:c.2596_2604dup MANE Select | ENSP00000344848.3:p.Ala868_Val869insGlnGl... | |
| ENST00000527303.2:c.2677_2685dup | ENSP00000433982.2:p.Ala895_Val896insGlnGl... | |
| ENST00000322810.8:c.3007_3015dup | ENSP00000323856.4:p.Ala1005_Val1006insGln... | |
| ENST00000345136.7:c.2596_2604dup | ENSP00000344848.3:p.Ala868_Val869insGlnGl... | |
| ENST00000354589.7:c.2596_2604dup | ENSP00000346602.3:p.Ala868_Val869insGlnGl... | |
| ENST00000354958.6:c.2530_2538dup | ENSP00000347044.2:p.Ala846_Val847insGlnGl... | |
| ENST00000356346.7:c.2554_2562dup MANE Plus Clinical | ENSP00000348702.3:p.Ala854_Val855insGlnGl... | |
| ENST00000357649.6:c.2608_2616dup | ENSP00000350277.2:p.Ala872_Val873insGlnGl... | |
| ENST00000398774.6:c.2500_2508dup | ENSP00000381756.2:p.Ala836_Val837insGlnGl... | |
| ENST00000436759.6:c.2677_2685dup | ENSP00000388180.2:p.Ala895_Val896insGlnGl... | |
| ENST00000527096.5:c.2665_2673dup | ENSP00000434583.1:p.Ala891_Val892insGlnGl... | |
| NM_000445.4:c.2677_2685dup | NP_000436.2:p.Ala895_Val896insGlnGluAla | |
| NM_201378.3:c.2554_2562dup | NP_958780.1:p.Ala854_Val855insGlnGluAla | |
| NM_201379.2:c.2530_2538dup | NP_958781.1:p.Ala846_Val847insGlnGluAla | |
| NM_201380.3:c.3007_3015dup | NP_958782.1:p.Ala1005_Val1006insGlnGluAla... | |
| NM_201381.2:c.2500_2508dup | NP_958783.1:p.Ala836_Val837insGlnGluAla | |
| NM_201382.3:c.2596_2604dup | NP_958784.1:p.Ala868_Val869insGlnGluAla | |
| NM_201383.2:c.2608_2616dup | NP_958785.1:p.Ala872_Val873insGlnGluAla | |
| NM_201384.2:c.2596_2604dup | NP_958786.1:p.Ala868_Val869insGlnGluAla | |
| XM_005250976.2:c.3022_3030dup | XP_005251033.1:p.Ala1010_Val1011insGlnGlu... | |
| XM_005250978.2:c.2623_2631dup | XP_005251035.1:p.Ala877_Val878insGlnGluAl... | |
| XM_005250979.3:c.2611_2619dup | XP_005251036.1:p.Ala873_Val874insGlnGluAl... | |
| XM_005250980.3:c.2611_2619dup | XP_005251037.1:p.Ala873_Val874insGlnGluAl... | |
| XM_005250981.2:c.2569_2577dup | XP_005251038.1:p.Ala859_Val860insGlnGluAl... | |
| XM_005250982.2:c.2545_2553dup | XP_005251039.1:p.Ala851_Val852insGlnGluAl... | |
| XM_005250983.2:c.2527_2535dup | XP_005251040.1:p.Ala845_Val846insGlnGluAl... | |
| XM_005250984.3:c.2515_2523dup | XP_005251041.1:p.Ala841_Val842insGlnGluAl... | |
| XM_006716588.2:c.2692_2700dup | XP_006716651.1:p.Ala900_Val901insGlnGluAl... | |
| XM_006716589.2:c.2542_2550dup | XP_006716652.1:p.Ala850_Val851insGlnGluAl... | |
| XM_006716590.2:c.2542_2550dup | XP_006716653.1:p.Ala850_Val851insGlnGluAl... | |
| XM_011517130.1:c.2611_2619dup | XP_011515432.1:p.Ala873_Val874insGlnGluAl... | |
| XM_011517131.1:c.2527_2535dup | XP_011515433.1:p.Ala845_Val846insGlnGluAl... | |
| XM_011517132.1:c.2623_2631dup | XP_011515434.1:p.Ala877_Val878insGlnGluAl... | |
| XM_005250976.4:c.3022_3030dup | XP_005251033.1:p.Ala1010_Val1011insGlnGlu... | |
| XM_005250978.3:c.2623_2631dup | XP_005251035.1:p.Ala877_Val878insGlnGluAl... | |
| XM_005250979.4:c.2611_2619dup | XP_005251036.1:p.Ala873_Val874insGlnGluAl... | |
| XM_005250980.4:c.2611_2619dup | XP_005251037.1:p.Ala873_Val874insGlnGluAl... | |
| XM_005250981.3:c.2569_2577dup | XP_005251038.1:p.Ala859_Val860insGlnGluAl... | |
| XM_005250982.4:c.2545_2553dup | XP_005251039.1:p.Ala851_Val852insGlnGluAl... | |
| XM_005250984.5:c.2515_2523dup | XP_005251041.1:p.Ala841_Val842insGlnGluAl... | |
| XM_006716588.3:c.2692_2700dup | XP_006716651.1:p.Ala900_Val901insGlnGluAl... | |
| XM_006716590.3:c.2542_2550dup | XP_006716653.1:p.Ala850_Val851insGlnGluAl... | |
| XM_011517130.2:c.2611_2619dup | XP_011515432.1:p.Ala873_Val874insGlnGluAl... | |
| XM_011517131.2:c.2527_2535dup | XP_011515433.1:p.Ala845_Val846insGlnGluAl... | |
| XM_011517132.2:c.2623_2631dup | XP_011515434.1:p.Ala877_Val878insGlnGluAl... | |
| NM_000445.5:c.2677_2685dup | NP_000436.2:p.Ala895_Val896insGlnGluAla | |
| NM_201378.4:c.2554_2562dup MANE Plus Clinical | NP_958780.1:p.Ala854_Val855insGlnGluAla | |
| NM_201379.3:c.2530_2538dup | NP_958781.1:p.Ala846_Val847insGlnGluAla | |
| NM_201380.4:c.3007_3015dup | NP_958782.1:p.Ala1005_Val1006insGlnGluAla... | |
| NM_201381.3:c.2500_2508dup | NP_958783.1:p.Ala836_Val837insGlnGluAla | |
| NM_201382.4:c.2596_2604dup | NP_958784.1:p.Ala868_Val869insGlnGluAla | |
| NM_201383.3:c.2608_2616dup | NP_958785.1:p.Ala872_Val873insGlnGluAla | |
| NM_201384.3:c.2596_2604dup MANE Select | NP_958786.1:p.Ala868_Val869insGlnGluAla |