WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
dbSNP Id:
rs1953904903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395960_17395961insC , CM000673.2:g.17395960_17395961insC | GRCh38 |
| NC_000011.9:g.17417507_17417508insC , CM000673.1:g.17417507_17417508insC | GRCh37 |
| NC_000011.8:g.17374083_17374084insC | NCBI36 |
| NG_008867.1:g.85942_85943insG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3721-31_3721-30insG | ||
| ENST00000528374.2:c.711-31_711-30insG | ||
| ENST00000529967.6:n.2459-31_2459-30insG | ||
| ENST00000532220.2:n.3322_3323insG | ||
| ENST00000642611.2:n.5289_5290insG | ||
| ENST00000644057.2:n.563-31_563-30insG | ||
| ENST00000645004.2:n.1619-31_1619-30insG | ||
| ENST00000682051.1:n.4282-31_4282-30insG | ||
| ENST00000682110.1:n.4335-31_4335-30insG | ||
| ENST00000682140.1:c.3986-31_3986-30insG | ENSP00000507829.1:n.3986-31_3986-30insG | |
| ENST00000682185.1:n.5425-31_5425-30insG | ||
| ENST00000682204.1:c.*2258-31_*2258-30insG | ENSP00000507094.1:n.*2258-31_*2258-30insG... | |
| ENST00000682215.1:n.4702-31_4702-30insG | ||
| ENST00000682288.1:c.*2551-31_*2551-30insG | ENSP00000507506.1:n.*2551-31_*2551-30insG... | |
| ENST00000682442.1:n.4555-31_4555-30insG | ||
| ENST00000682528.1:n.4412-31_4412-30insG | ||
| ENST00000682673.1:n.4279-31_4279-30insG | ||
| ENST00000682805.1:n.4740-31_4740-30insG | ||
| ENST00000682965.1:c.*542-31_*542-30insG | ENSP00000508229.1:n.*542-31_*542-30insG | |
| ENST00000683093.1:n.5388_5389insG | ||
| ENST00000683136.1:c.4003-31_4003-30insG | ENSP00000507768.1:n.4003-31_4003-30insG | |
| ENST00000683153.1:n.4377-31_4377-30insG | ||
| ENST00000683365.1:n.4437-31_4437-30insG | ||
| ENST00000683377.1:n.4335-31_4335-30insG | ||
| ENST00000683456.1:c.*1257-31_*1257-30insG | ENSP00000508318.1:n.*1257-31_*1257-30insG... | |
| ENST00000683522.1:n.4335-31_4335-30insG | ||
| ENST00000683562.1:c.*2289-31_*2289-30insG | ENSP00000508265.1:n.*2289-31_*2289-30insG... | |
| ENST00000683693.1:n.5736_5737insG | ||
| ENST00000683725.1:c.4120-31_4120-30insG | ENSP00000507496.1:n.4120-31_4120-30insG | |
| ENST00000684010.1:n.4330-31_4330-30insG | ||
| ENST00000684157.1:n.5289_5290insG | ||
| ENST00000684253.1:n.4238-31_4238-30insG | ||
| ENST00000684288.1:c.*2292-31_*2292-30insG | ENSP00000507143.1:n.*2292-31_*2292-30insG... | |
| ENST00000684313.1:n.3767-31_3767-30insG | ||
| ENST00000684332.1:n.4408-31_4408-30insG | ||
| ENST00000684371.1:n.4441-31_4441-30insG | ||
| ENST00000684404.1:n.5332_5333insG | ||
| ENST00000684442.1:n.4559-31_4559-30insG | ||
| ENST00000684555.1:c.*2332-31_*2332-30insG | ENSP00000507705.1:n.*2332-31_*2332-30insG... | |
| ENST00000684571.1:c.3961-31_3961-30insG | ENSP00000506935.1:n.3961-31_3961-30insG | |
| ENST00000684593.1:c.*3825-31_*3825-30insG | ENSP00000507005.1:n.*3825-31_*3825-30insG... | |
| ENST00000684711.1:c.*2516-31_*2516-30insG | ENSP00000506841.1:n.*2516-31_*2516-30insG... | |
| ENST00000302539.9:c.4123-31_4123-30insG | ENSP00000303960.4:n.4123-31_4123-30insG | |
| ENST00000389817.8:c.4120-31_4120-30insG MANE Select | ENSP00000374467.4:n.4120-31_4120-30insG | |
| ENST00000642271.1:c.4117-31_4117-30insG | ENSP00000493749.1:n.4117-31_4117-30insG | |
| ENST00000642579.1:c.2174-31_2174-30insG | ||
| ENST00000642611.1:n.5174_5175insG | ||
| ENST00000642902.1:c.3902-31_3902-30insG | ||
| ENST00000643260.1:c.4120-31_4120-30insG | ENSP00000494450.1:n.4120-31_4120-30insG | |
| ENST00000643562.1:c.*2242-31_*2242-30insG | ENSP00000496124.1:n.*2242-31_*2242-30insG... | |
| ENST00000643925.1:c.2760-31_2760-30insG | ||
| ENST00000644057.1:n.197-31_197-30insG | ||
| ENST00000644484.1:c.*3475_*3476insG | ENSP00000493558.1:n.*3475_*3476insG | |
| ENST00000644675.1:c.*2292-31_*2292-30insG | ENSP00000494567.1:n.*2292-31_*2292-30insG... | |
| ENST00000644757.1:c.*3202+303_*3202+304insG | ENSP00000495085.1:n.*3202+303_*3202+304in... | |
| ENST00000644772.1:c.4186-31_4186-30insG | ENSP00000494321.1:n.4186-31_4186-30insG | |
| ENST00000645004.1:n.1813-31_1813-30insG | ||
| ENST00000645076.1:c.3319-31_3319-30insG | ||
| ENST00000645417.1:c.1308-31_1308-30insG | ||
| ENST00000645744.1:c.*3854_*3855insG | ENSP00000494564.1:n.*3854_*3855insG | |
| ENST00000645760.1:c.4541-31_4541-30insG | ||
| ENST00000645884.1:c.*1403-31_*1403-30insG | ENSP00000495516.1:n.*1403-31_*1403-30insG... | |
| ENST00000646003.1:c.*2222-31_*2222-30insG | ENSP00000495259.1:n.*2222-31_*2222-30insG... | |
| ENST00000646207.1:c.*2957-31_*2957-30insG | ENSP00000495025.1:n.*2957-31_*2957-30insG... | |
| ENST00000646276.1:c.*3493_*3494insG | ENSP00000496070.1:n.*3493_*3494insG | |
| ENST00000646592.1:c.3426-31_3426-30insG | ||
| ENST00000646902.1:c.4087-31_4087-30insG | ENSP00000494101.1:n.4087-31_4087-30insG | |
| ENST00000646993.1:c.*2662-31_*2662-30insG | ENSP00000493720.1:n.*2662-31_*2662-30insG... | |
| ENST00000647013.1:c.4126-31_4126-30insG | ENSP00000496741.1:n.4126-31_4126-30insG | |
| ENST00000647015.1:c.3871-31_3871-30insG | ENSP00000495389.1:n.3871-31_3871-30insG | |
| ENST00000647086.1:c.*3706-31_*3706-30insG | ENSP00000493677.1:n.*3706-31_*3706-30insG... | |
| ENST00000647158.1:c.*2407-31_*2407-30insG | ENSP00000495744.1:n.*2407-31_*2407-30insG... | |
| ENST00000302539.8:c.4123-31_4123-30insG | ENSP00000303960.4:n.4123-31_4123-30insG | |
| ENST00000389817.7:c.4120-31_4120-30insG | ENSP00000374467.3:n.4120-31_4120-30insG | |
| ENST00000528374.1:c.602-31_602-30insG | ||
| ENST00000532220.1:n.594-31_594-30insG | ||
| NM_000352.4:c.4120-31_4120-30insG | NP_000343.2:n.4120-31_4120-30insG | |
| NM_001287174.1:c.4123-31_4123-30insG | NP_001274103.1:n.4123-31_4123-30insG | |
| XM_011520331.1:c.4120-31_4120-30insG | XP_011518633.1:n.4120-31_4120-30insG | |
| XM_011520332.1:c.4123-31_4123-30insG | XP_011518634.1:n.4123-31_4123-30insG | |
| XM_011520333.1:c.2620-31_2620-30insG | XP_011518635.1:n.2620-31_2620-30insG | |
| XR_930890.1:n.4186-31_4186-30insG | ||
| NM_001351295.1:c.4186-31_4186-30insG | NP_001338224.1:n.4186-31_4186-30insG | |
| NM_001351296.1:c.4120-31_4120-30insG | NP_001338225.1:n.4120-31_4120-30insG | |
| NM_001351297.1:c.4117-31_4117-30insG | NP_001338226.1:n.4117-31_4117-30insG | |
| NR_147094.1:n.4415-31_4415-30insG | ||
| XM_017018197.2:c.4189-31_4189-30insG | XP_016873686.1:n.4189-31_4189-30insG | |
| XM_017018199.1:c.4186-31_4186-30insG | XP_016873688.1:n.4186-31_4186-30insG | |
| XM_017018201.2:c.4189-31_4189-30insG | XP_016873690.1:n.4189-31_4189-30insG | |
| XM_017018202.1:c.2686-31_2686-30insG | XP_016873691.1:n.2686-31_2686-30insG | |
| XM_017018204.1:c.2077-31_2077-30insG | XP_016873693.1:n.2077-31_2077-30insG | |
| XM_024448668.1:c.2488-31_2488-30insG | XP_024304436.1:n.2488-31_2488-30insG | |
| XR_001747945.2:n.4261-31_4261-30insG | ||
| XR_001747946.2:n.4192-31_4192-30insG | ||
| XR_002957189.1:n.5811_5812insG | ||
| NM_000352.6:c.4120-31_4120-30insG MANE Select | NP_000343.2:n.4120-31_4120-30insG | |
| NM_001287174.2:c.4123-31_4123-30insG | NP_001274103.1:n.4123-31_4123-30insG | |
| NM_001351295.2:c.4186-31_4186-30insG | NP_001338224.1:n.4186-31_4186-30insG | |
| NM_001351296.2:c.4120-31_4120-30insG | NP_001338225.1:n.4120-31_4120-30insG | |
| NM_001351297.2:c.4117-31_4117-30insG | NP_001338226.1:n.4117-31_4117-30insG | |
| NR_147094.2:n.4415-31_4415-30insG | ||
| NM_001287174.3:c.4123-31_4123-30insG | NP_001274103.1:n.4123-31_4123-30insG |