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
gnomAD v4:
11-17395949-GCACCGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17395951_17395958del , CM000673.2:g.17395951_17395958del | GRCh38 |
| NC_000011.9:g.17417498_17417505del , CM000673.1:g.17417498_17417505del | GRCh37 |
| NC_000011.8:g.17374074_17374081del | NCBI36 |
| NG_008867.1:g.85946_85953del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.3721-27_3721-20del | ||
| ENST00000528374.2:c.711-27_711-20del | ||
| ENST00000529967.6:n.2459-27_2459-20del | ||
| ENST00000532220.2:n.3326_3333del | ||
| ENST00000642611.2:n.5293_5300del | ||
| ENST00000644057.2:n.563-27_563-20del | ||
| ENST00000645004.2:n.1619-27_1619-20del | ||
| ENST00000682051.1:n.4282-27_4282-20del | ||
| ENST00000682110.1:n.4335-27_4335-20del | ||
| ENST00000682140.1:c.3986-27_3986-20del | ENSP00000507829.1:n.3986-27_3986-20del | |
| ENST00000682185.1:n.5425-27_5425-20del | ||
| ENST00000682204.1:c.*2258-27_*2258-20del | ENSP00000507094.1:n.*2258-27_*2258-20del | |
| ENST00000682215.1:n.4702-27_4702-20del | ||
| ENST00000682288.1:c.*2551-27_*2551-20del | ENSP00000507506.1:n.*2551-27_*2551-20del | |
| ENST00000682442.1:n.4555-27_4555-20del | ||
| ENST00000682528.1:n.4412-27_4412-20del | ||
| ENST00000682673.1:n.4279-27_4279-20del | ||
| ENST00000682805.1:n.4740-27_4740-20del | ||
| ENST00000682965.1:c.*542-27_*542-20del | ENSP00000508229.1:n.*542-27_*542-20del | |
| ENST00000683093.1:n.5392_5399del | ||
| ENST00000683136.1:c.4003-27_4003-20del | ENSP00000507768.1:n.4003-27_4003-20del | |
| ENST00000683153.1:n.4377-27_4377-20del | ||
| ENST00000683365.1:n.4437-27_4437-20del | ||
| ENST00000683377.1:n.4335-27_4335-20del | ||
| ENST00000683456.1:c.*1257-27_*1257-20del | ENSP00000508318.1:n.*1257-27_*1257-20del | |
| ENST00000683522.1:n.4335-27_4335-20del | ||
| ENST00000683562.1:c.*2289-27_*2289-20del | ENSP00000508265.1:n.*2289-27_*2289-20del | |
| ENST00000683693.1:n.5740_5747del | ||
| ENST00000683725.1:c.4120-27_4120-20del | ENSP00000507496.1:n.4120-27_4120-20del | |
| ENST00000684010.1:n.4330-27_4330-20del | ||
| ENST00000684157.1:n.5293_5300del | ||
| ENST00000684253.1:n.4238-27_4238-20del | ||
| ENST00000684288.1:c.*2292-27_*2292-20del | ENSP00000507143.1:n.*2292-27_*2292-20del | |
| ENST00000684313.1:n.3767-27_3767-20del | ||
| ENST00000684332.1:n.4408-27_4408-20del | ||
| ENST00000684371.1:n.4441-27_4441-20del | ||
| ENST00000684404.1:n.5336_5343del | ||
| ENST00000684442.1:n.4559-27_4559-20del | ||
| ENST00000684555.1:c.*2332-27_*2332-20del | ENSP00000507705.1:n.*2332-27_*2332-20del | |
| ENST00000684571.1:c.3961-27_3961-20del | ENSP00000506935.1:n.3961-27_3961-20del | |
| ENST00000684593.1:c.*3825-27_*3825-20del | ENSP00000507005.1:n.*3825-27_*3825-20del | |
| ENST00000684711.1:c.*2516-27_*2516-20del | ENSP00000506841.1:n.*2516-27_*2516-20del | |
| ENST00000302539.9:c.4123-27_4123-20del | ENSP00000303960.4:n.4123-27_4123-20del | |
| ENST00000389817.8:c.4120-27_4120-20del MANE Select | ENSP00000374467.4:n.4120-27_4120-20del | |
| ENST00000642271.1:c.4117-27_4117-20del | ENSP00000493749.1:n.4117-27_4117-20del | |
| ENST00000642579.1:c.2174-27_2174-20del | ||
| ENST00000642611.1:n.5178_5185del | ||
| ENST00000642902.1:c.3902-27_3902-20del | ||
| ENST00000643260.1:c.4120-27_4120-20del | ENSP00000494450.1:n.4120-27_4120-20del | |
| ENST00000643562.1:c.*2242-27_*2242-20del | ENSP00000496124.1:n.*2242-27_*2242-20del | |
| ENST00000643925.1:c.2760-27_2760-20del | ||
| ENST00000644057.1:n.197-27_197-20del | ||
| ENST00000644484.1:c.*3479_*3486del | ENSP00000493558.1:n.*3479_*3486del | |
| ENST00000644675.1:c.*2292-27_*2292-20del | ENSP00000494567.1:n.*2292-27_*2292-20del | |
| ENST00000644757.1:c.*3202+307_*3202+314del | ENSP00000495085.1:n.*3202+307_*3202+314de... | |
| ENST00000644772.1:c.4186-27_4186-20del | ENSP00000494321.1:n.4186-27_4186-20del | |
| ENST00000645004.1:n.1813-27_1813-20del | ||
| ENST00000645076.1:c.3319-27_3319-20del | ||
| ENST00000645417.1:c.1308-27_1308-20del | ||
| ENST00000645744.1:c.*3858_*3865del | ENSP00000494564.1:n.*3858_*3865del | |
| ENST00000645760.1:c.4541-27_4541-20del | ||
| ENST00000645884.1:c.*1403-27_*1403-20del | ENSP00000495516.1:n.*1403-27_*1403-20del | |
| ENST00000646003.1:c.*2222-27_*2222-20del | ENSP00000495259.1:n.*2222-27_*2222-20del | |
| ENST00000646207.1:c.*2957-27_*2957-20del | ENSP00000495025.1:n.*2957-27_*2957-20del | |
| ENST00000646276.1:c.*3497_*3504del | ENSP00000496070.1:n.*3497_*3504del | |
| ENST00000646592.1:c.3426-27_3426-20del | ||
| ENST00000646902.1:c.4087-27_4087-20del | ENSP00000494101.1:n.4087-27_4087-20del | |
| ENST00000646993.1:c.*2662-27_*2662-20del | ENSP00000493720.1:n.*2662-27_*2662-20del | |
| ENST00000647013.1:c.4126-27_4126-20del | ENSP00000496741.1:n.4126-27_4126-20del | |
| ENST00000647015.1:c.3871-27_3871-20del | ENSP00000495389.1:n.3871-27_3871-20del | |
| ENST00000647086.1:c.*3706-27_*3706-20del | ENSP00000493677.1:n.*3706-27_*3706-20del | |
| ENST00000647158.1:c.*2407-27_*2407-20del | ENSP00000495744.1:n.*2407-27_*2407-20del | |
| ENST00000302539.8:c.4123-27_4123-20del | ENSP00000303960.4:n.4123-27_4123-20del | |
| ENST00000389817.7:c.4120-27_4120-20del | ENSP00000374467.3:n.4120-27_4120-20del | |
| ENST00000528374.1:c.602-27_602-20del | ||
| ENST00000532220.1:n.594-27_594-20del | ||
| NM_000352.4:c.4120-27_4120-20del | NP_000343.2:n.4120-27_4120-20del | |
| NM_001287174.1:c.4123-27_4123-20del | NP_001274103.1:n.4123-27_4123-20del | |
| XM_011520331.1:c.4120-27_4120-20del | XP_011518633.1:n.4120-27_4120-20del | |
| XM_011520332.1:c.4123-27_4123-20del | XP_011518634.1:n.4123-27_4123-20del | |
| XM_011520333.1:c.2620-27_2620-20del | XP_011518635.1:n.2620-27_2620-20del | |
| XR_930890.1:n.4186-27_4186-20del | ||
| NM_001351295.1:c.4186-27_4186-20del | NP_001338224.1:n.4186-27_4186-20del | |
| NM_001351296.1:c.4120-27_4120-20del | NP_001338225.1:n.4120-27_4120-20del | |
| NM_001351297.1:c.4117-27_4117-20del | NP_001338226.1:n.4117-27_4117-20del | |
| NR_147094.1:n.4415-27_4415-20del | ||
| XM_017018197.2:c.4189-27_4189-20del | XP_016873686.1:n.4189-27_4189-20del | |
| XM_017018199.1:c.4186-27_4186-20del | XP_016873688.1:n.4186-27_4186-20del | |
| XM_017018201.2:c.4189-27_4189-20del | XP_016873690.1:n.4189-27_4189-20del | |
| XM_017018202.1:c.2686-27_2686-20del | XP_016873691.1:n.2686-27_2686-20del | |
| XM_017018204.1:c.2077-27_2077-20del | XP_016873693.1:n.2077-27_2077-20del | |
| XM_024448668.1:c.2488-27_2488-20del | XP_024304436.1:n.2488-27_2488-20del | |
| XR_001747945.2:n.4261-27_4261-20del | ||
| XR_001747946.2:n.4192-27_4192-20del | ||
| XR_002957189.1:n.5815_5822del | ||
| NM_000352.6:c.4120-27_4120-20del MANE Select | NP_000343.2:n.4120-27_4120-20del | |
| NM_001287174.2:c.4123-27_4123-20del | NP_001274103.1:n.4123-27_4123-20del | |
| NM_001351295.2:c.4186-27_4186-20del | NP_001338224.1:n.4186-27_4186-20del | |
| NM_001351296.2:c.4120-27_4120-20del | NP_001338225.1:n.4120-27_4120-20del | |
| NM_001351297.2:c.4117-27_4117-20del | NP_001338226.1:n.4117-27_4117-20del | |
| NR_147094.2:n.4415-27_4415-20del | ||
| NM_001287174.3:c.4123-27_4123-20del | NP_001274103.1:n.4123-27_4123-20del |