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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151497626_151497630del , CM000664.2:g.151497626_151497630del | GRCh38 |
| NC_000002.11:g.152354140_152354144del , CM000664.1:g.152354140_152354144del | GRCh37 |
| NC_000002.10:g.152062386_152062390del | NCBI36 |
| NG_009382.2:g.241859_241863del , LRG_202:g.241859_241863del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434685.6:c.3075-5135_3075-5131del (NEB) | ||
| ENST00000688578.1:c.900-596_900-592del (NEB) | ||
| ENST00000690043.1:c.6378-3376_6378-3372del (NEB) | ||
| ENST00000693000.1:n.2657-5135_2657-5131del (NEB) | ||
| ENST00000397345.8:c.24297_24300+1del (NEB) | ||
| ENST00000427231.7:c.24297_24300+1del (NEB) | ||
| ENST00000172853.14:c.18826-1261_18826-1257del (NEB) | ENSP00000172853.10:n.18826-1261_18826-125... | |
| ENST00000397337.6:c.698_701+1del (NEB) | ||
| ENST00000397345.7:c.24297_24300+1del (NEB) | ||
| ENST00000409198.5:c.18826-1261_18826-1257del (NEB) | ENSP00000386259.1:n.18826-1261_18826-1257... | |
| ENST00000413693.5:c.8026-1261_8026-1257del (NEB) | ENSP00000410961.1:n.8026-1261_8026-1257de... | |
| ENST00000421461.6:c.733_736+1del (NEB) | ||
| ENST00000424585.1:c.610-596_610-592del (NEB) | ENSP00000404876.1:n.610-596_610-592del | |
| ENST00000427231.6:c.24297_24300+1del (NEB) | ||
| ENST00000434685.5:c.1395-3376_1395-3372del (NEB) | ||
| ENST00000454583.6:c.2754-1719_2754-1715del (RIF1) | ||
| ENST00000457745.1:n.579-160_579-156del (RIF1) | ||
| ENST00000484077.1:n.353-160_353-156del (RIF1) | ||
| ENST00000498015.2:n.226-5135_226-5131del (NEB) | ||
| ENST00000603639.5:c.24297_24300+1del (NEB) | ||
| ENST00000604864.5:c.24297_24300+1del (NEB) | ||
| ENST00000618972.4:c.24402_24405+1del (NEB) | ||
| NM_001164507.1:c.24297_24300+1del (NEB) | ||
| NM_001164508.1:c.24297_24300+1del (NEB) | ||
| NM_001271208.1:c.24402_24405+1del , LRG_202t1:c.24402_24405+1del (NEB) | ||
| NM_004543.4:c.18826-1261_18826-1257del (NEB) | NP_004534.2:n.18826-1261_18826-1257del | |
| XM_005246590.1:c.24204_24207+1del (NEB) | ||
| XM_005246591.1:c.24204_24207+1del (NEB) | ||
| XM_005246592.1:c.24297_24300+1del (NEB) | ||
| XM_005246593.1:c.24297_24300+1del (NEB) | ||
| XM_005246594.1:c.24204_24207+1del (NEB) | ||
| XM_005246595.1:c.24204_24207+1del (NEB) | ||
| XM_005246596.1:c.24111_24114+1del (NEB) | ||
| XM_005246597.1:c.24297_24300+1del (NEB) | ||
| XM_005246598.1:c.24297_24300+1del (NEB) | ||
| XM_005246599.1:c.24018_24021+1del (NEB) | ||
| XM_005246600.1:c.24018_24021+1del (NEB) | ||
| XM_005246601.1:c.23929-596_23929-592del (NEB) | XP_005246658.1:n.23929-596_23929-592del | |
| XM_005246602.1:c.23925_23928+1del (NEB) | ||
| XM_005246603.1:c.23929-1261_23929-1257del (NEB) | XP_005246660.1:n.23929-1261_23929-1257del... | |
| XM_005246604.1:c.23929-596_23929-592del (NEB) | XP_005246661.1:n.23929-596_23929-592del | |
| XM_005246606.1:c.23925_23928+1del (NEB) | ||
| XM_005246608.1:c.23929-3376_23929-3372del (NEB) | XP_005246665.1:n.23929-3376_23929-3372del... | |
| XM_005246610.1:c.23836-3376_23836-3372del (NEB) | XP_005246667.1:n.23836-3376_23836-3372del... | |
| XM_005246611.1:c.24021+3762_24021+3766del (NEB) | XP_005246668.1:n.24021+3762_24021+3766del... | |
| XM_005246612.1:c.23568_23571+1del (NEB) | ||
| XM_005246613.1:c.23568_23571+1del (NEB) | ||
| XM_005246615.1:c.23925_23928+1del (NEB) | ||
| XM_005246616.1:c.*595_*599del (NEB) | XP_005246673.1:n.*595_*599del | |
| XM_005246617.1:c.21381_21384+1del (NEB) | ||
| XM_006712541.1:c.23929-1261_23929-1257del (NEB) | XP_006712604.1:n.23929-1261_23929-1257del... | |
| XM_006712542.1:c.24018_24021+1del (NEB) | ||
| XM_011511224.1:c.24204_24207+1del (NEB) | ||
| XM_011511225.1:c.23743-3376_23743-3372del (NEB) | XP_011509527.1:n.23743-3376_23743-3372del... | |
| XM_011511226.1:c.22110_22113+1del (NEB) | ||
| XM_011511227.1:c.19923_19926+1del (NEB) | ||
| XR_922955.1:n.7838+14291_7838+14295del (RIF1) | ||
| XR_922956.1:n.7937-160_7937-156del (RIF1) | ||
| XR_922957.1:n.7839-160_7839-156del (RIF1) | ||
| XM_005246590.2:c.24204_24207+1del (NEB) | ||
| XM_005246591.2:c.24204_24207+1del (NEB) | ||
| XM_005246592.2:c.24297_24300+1del (NEB) | ||
| XM_005246593.2:c.24297_24300+1del (NEB) | ||
| XM_005246594.2:c.24204_24207+1del (NEB) | ||
| XM_005246596.2:c.24111_24114+1del (NEB) | ||
| XM_005246597.2:c.24297_24300+1del (NEB) | ||
| XM_005246598.2:c.24297_24300+1del (NEB) | ||
| XM_005246599.2:c.24018_24021+1del (NEB) | ||
| XM_005246601.2:c.23929-596_23929-592del (NEB) | XP_005246658.1:n.23929-596_23929-592del | |
| XM_005246602.2:c.23925_23928+1del (NEB) | ||
| XM_005246603.2:c.23929-1261_23929-1257del (NEB) | XP_005246660.1:n.23929-1261_23929-1257del... | |
| XM_005246604.2:c.23929-596_23929-592del (NEB) | XP_005246661.1:n.23929-596_23929-592del | |
| XM_005246606.2:c.23925_23928+1del (NEB) | ||
| XM_005246608.2:c.23929-3376_23929-3372del (NEB) | XP_005246665.1:n.23929-3376_23929-3372del... | |
| XM_005246610.2:c.23836-3376_23836-3372del (NEB) | XP_005246667.1:n.23836-3376_23836-3372del... | |
| XM_005246611.2:c.24021+3762_24021+3766del (NEB) | XP_005246668.1:n.24021+3762_24021+3766del... | |
| XM_005246612.2:c.23568_23571+1del (NEB) | ||
| XM_005246613.2:c.23568_23571+1del (NEB) | ||
| XM_005246615.2:c.23925_23928+1del (NEB) | ||
| XM_005246617.2:c.21381_21384+1del (NEB) | ||
| XM_006712541.2:c.23929-1261_23929-1257del (NEB) | XP_006712604.1:n.23929-1261_23929-1257del... | |
| XM_006712542.2:c.24018_24021+1del (NEB) | ||
| XM_011511225.2:c.23743-3376_23743-3372del (NEB) | XP_011509527.1:n.23743-3376_23743-3372del... | |
| XM_011511226.2:c.22110_22113+1del (NEB) | ||
| XM_011511227.2:c.19923_19926+1del (NEB) | ||
| XM_017004177.1:c.24186_24189+1del (NEB) | ||
| XM_017004178.1:c.24111_24114+1del (NEB) | ||
| XM_017004179.1:c.23836-596_23836-592del (NEB) | XP_016859668.1:n.23836-596_23836-592del | |
| XM_017004180.1:c.23832_23835+1del (NEB) | ||
| XM_017004181.1:c.23836-1261_23836-1257del (NEB) | XP_016859670.1:n.23836-1261_23836-1257del... | |
| XM_017004182.1:c.23836-1261_23836-1257del (NEB) | XP_016859671.1:n.23836-1261_23836-1257del... | |
| XM_017004183.1:c.23836-3376_23836-3372del (NEB) | XP_016859672.1:n.23836-3376_23836-3372del... | |
| XM_017004184.1:c.23836-1261_23836-1257del (NEB) | XP_016859673.1:n.23836-1261_23836-1257del... | |
| XM_017004185.1:c.23743-5135_23743-5131del (NEB) | XP_016859674.1:n.23743-5135_23743-5131del... | |
| XR_001738811.2:n.8312-160_8312-156del (RIF1) | ||
| XR_001738812.2:n.8312-1779_8312-1775del (RIF1) | ||
| XR_001738813.2:n.8214-160_8214-156del (RIF1) | ||
| XR_001738814.2:n.8214-1779_8214-1775del (RIF1) | ||
| XR_001738815.2:n.8214-5408_8214-5404del (RIF1) | ||
| XR_001738816.2:n.8214-8584_8214-8580del (RIF1) | ||
| XR_001738817.2:n.8213+14291_8213+14295del (RIF1) | ||
| NM_001271208.2:c.24402_24405+1del (NEB) | ||
| NM_004543.5:c.18826-1261_18826-1257del (NEB) | NP_004534.3:n.18826-1261_18826-1257del | |
| NM_001164507.2:c.24297_24300+1del (NEB) | ||
| NM_001164508.2:c.24297_24300+1del (NEB) |