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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32582202_32582203insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT , CM000674.2:g.32582202_32582203insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | GRCh38 |
| NC_000012.11:g.32735136_32735137insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT , CM000674.1:g.32735136_32735137insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | GRCh37 |
| NC_000012.10:g.32626403_32626404insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NCBI36 |
| NG_008626.2:g.187674_187675insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000394487.2:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000531134.7:c.590_591insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000431323.1:p.Ser197_Asp198insAlaThrSerProSerPheSerCysP... | |
| ENST00000583694.2:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000462623.2:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000682739.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000507616.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPhe... | |
| ENST00000683182.1:c.-449-16295_-449-16294insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000507831.1:n.-449-16295_-449-16294insTGCAACCTCACCGAGTT... | |
| ENST00000525053.6:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000433666.2:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000531134.6:c.590_591insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000431323.1:p.Ser197_Asp198insAlaThrSerProSerPheSerCysP... | |
| ENST00000534526.7:c.746_747insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT MANE Select | ENSP00000449273.1:p.Ser249_Asp250insAlaThrSerProSerPheSerCysP... | |
| ENST00000395740.5:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000379089.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000427716.6:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000394487.2:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000472289.5:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000434356.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000493087.5:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000437109.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysP... | |
| ENST00000494275.5:n.686_687insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ||
| ENST00000525053.5:c.671_672insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000433666.1:p.Ser224_Asp225insAlaThrSerProSerPheSerCysP... | |
| ENST00000531134.5:c.590_591insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000431323.1:p.Ser197_Asp198insAlaThrSerProSerPheSerCysP... | |
| ENST00000534526.6:c.746_747insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000449273.1:p.Ser249_Asp250insAlaThrSerProSerPheSerCysP... | |
| ENST00000546442.5:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000446695.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPhe... | |
| ENST00000550091.5:n.500_501insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ||
| ENST00000551984.5:c.92+5753_92+5754insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ENSP00000449614.1:n.92+5753_92+5754insTGCAACCTCACCGAGTTTTAGTT... | |
| NM_001304480.1:c.671_672insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001291409.1:p.Ser224_Asp225insAlaThrSerProSerPheSerCysPheI... | |
| NM_001304481.1:c.590_591insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001291410.1:p.Ser197_Asp198insAlaThrSerProSerPheSerCysPheI... | |
| NM_001304483.1:c.-510_-509insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001291412.1:n.-510_-509insTGCAACCTCACCGAGTTTTAGTTGCTTTATTT... | |
| NM_001304484.1:c.-817_-816insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001291413.1:n.-817_-816insTGCAACCTCACCGAGTTTTAGTTGCTTTATTT... | |
| NM_139241.3:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_640334.2:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheIleS... | |
| XM_005253304.3:c.827_828insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253361.1:p.Ser276_Asp277insAlaThrSerProSerPheSerCysPheI... | |
| XM_005253307.2:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253364.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_005253308.3:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253365.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_005253309.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253366.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_011520554.1:c.629_630insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_011518856.1:p.Ser210_Asp211insAlaThrSerProSerPheSerCysPheI... | |
| XM_011520555.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_011518857.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| XM_011520556.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_011518858.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| XM_011520557.1:c.49-16295_49-16294insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_011518859.1:n.49-16295_49-16294insTGCAACCTCACCGAGTTTTAGTTG... | |
| NM_001330373.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001317302.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| NM_001330374.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001317303.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_005253304.4:c.827_828insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253361.1:p.Ser276_Asp277insAlaThrSerProSerPheSerCysPheI... | |
| XM_005253308.5:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253365.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_005253310.4:c.-510_-509insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_005253367.1:n.-510_-509insTGCAACCTCACCGAGTTTTAGTTGCTTTATTT... | |
| XM_017018803.1:c.827_828insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_016874292.1:p.Ser276_Asp277insAlaThrSerProSerPheSerCysPheI... | |
| XM_017018805.1:c.49-16295_49-16294insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_016874294.1:n.49-16295_49-16294insTGCAACCTCACCGAGTTTTAGTTG... | |
| XM_024448837.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_024304605.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_024448838.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_024304606.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_024448839.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_024304607.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| XM_024448840.1:c.-202-16295_-202-16294insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | XP_024304608.1:n.-202-16295_-202-16294insTGCAACCTCACCGAGTTTTA... | |
| XR_001748576.1:n.1017_1018insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | ||
| NM_001370297.1:c.49-16295_49-16294insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001357226.1:n.49-16295_49-16294insTGCAACCTCACCGAGTTTTAGTTG... | |
| NM_001370298.1:c.827_828insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001357227.1:p.Ser276_Asp277insAlaThrSerProSerPheSerCysPheI... | |
| NM_001304483.2:c.-510_-509insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001291412.1:n.-510_-509insTGCAACCTCACCGAGTTTTAGTTGCTTTATTT... | |
| NM_001304484.2:c.-817_-816insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001291413.1:n.-817_-816insTGCAACCTCACCGAGTTTTAGTTGCTTTATTT... | |
| NM_001330373.2:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001317302.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| NM_001330374.2:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001317303.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| NM_001370298.3:c.746_747insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT MANE Select | NP_001357227.2:p.Ser249_Asp250insAlaThrSerProSerPheSerCysPheI... | |
| NM_001384126.1:c.746_747insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001371055.1:p.Ser249_Asp250insAlaThrSerProSerPheSerCysPheI... | |
| NM_001384127.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001371056.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| NM_001384128.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001371057.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| NM_001384130.1:c.56_57insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001371059.1:p.Ser19_Asp20insAlaThrSerProSerPheSerCysPheIle... | |
| NM_001384131.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001371060.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| NM_001384132.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001371061.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| NM_001385118.1:c.335_336insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT | NP_001372047.1:p.Ser112_Asp113insAlaThrSerProSerPheSerCysPheI... | |
| NR_168884.1:n.572_573insTGCAACCTCACCGAGTTTTAGTTGCTTTATTTCTTCTCGTTT |