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_000001.11:g.45331732_45331832del , CM000663.2:g.45331732_45331832del | GRCh38 |
| NC_000001.10:g.45797404_45797504del , CM000663.1:g.45797404_45797504del | GRCh37 |
| NC_000001.9:g.45569991_45570091del | NCBI36 |
| NG_008189.1:g.13650_13750del , LRG_220:g.13650_13750del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412971.6:c.558_658del | ENSP00000410263.2:p.Leu187SerfsTer? | |
| ENST00000435155.2:c.975_1075del | ENSP00000403655.2:p.Leu326SerfsTer? | |
| ENST00000467459.6:c.965_1065del | ENSP00000435889.2:p.Ala322ValfsTer? | |
| ENST00000483127.2:c.960_1060del | ENSP00000436469.2:p.Leu321SerfsTer? | |
| ENST00000485271.6:c.942_1042del | ENSP00000431264.2:p.Leu315SerfsTer? | |
| ENST00000529892.6:c.955+202_956-165del | ENSP00000432528.2:n.955+202_956-165del | |
| ENST00000533178.6:c.*271_*371del | ENSP00000436430.2:n.*271_*371del | |
| ENST00000672314.2:c.942_1042del | ENSP00000500828.2:p.Leu315SerfsTer? | |
| ENST00000710952.2:c.1026_1126del MANE Plus Clinical | ENSP00000518552.2:p.Leu343SerfsTer? | |
| ENST00000672818.3:c.1017_1117del | ENSP00000500891.1:p.Leu340SerfsTer? | |
| ENST00000456914.7:c.942_1042del MANE Select | ENSP00000407590.2:p.Leu315SerfsTer? | |
| ENST00000671898.1:c.1530_1630del | ENSP00000499896.1:p.Leu511SerfsTer? | |
| ENST00000672011.1:c.*271_*371del | ENSP00000500418.1:n.*271_*371del | |
| ENST00000672314.1:c.942_1042del | ENSP00000500828.1:p.Leu315SerfsTer? | |
| ENST00000672593.1:c.*1168_*1268del | ENSP00000500455.1:n.*1168_*1268del | |
| ENST00000672818.2:c.1017_1117del | ENSP00000500891.1:p.Leu340SerfsTer? | |
| ENST00000673134.1:c.*639_*739del | ENSP00000500526.1:n.*639_*739del | |
| ENST00000354383.10:c.945_1045del | ENSP00000346354.6:p.Leu316SerfsTer? | |
| ENST00000355498.6:c.942_1042del | ENSP00000347685.2:p.Leu315SerfsTer? | |
| ENST00000372098.7:c.1017_1117del | ENSP00000361170.3:p.Leu340SerfsTer? | |
| ENST00000372104.5:c.942_1042del | ENSP00000361176.1:p.Leu315SerfsTer? | |
| ENST00000372110.7:c.987_1087del | ENSP00000361182.3:p.Leu330SerfsTer? | |
| ENST00000372115.7:c.984_1084del | ENSP00000361187.3:p.Leu329SerfsTer? | |
| ENST00000448481.5:c.975_1075del | ENSP00000409718.1:p.Leu326SerfsTer? | |
| ENST00000450313.5:c.1026_1126del | ENSP00000408176.1:p.Leu343SerfsTer? | |
| ENST00000456914.6:c.942_1042del | ENSP00000407590.2:p.Leu315SerfsTer? | |
| ENST00000467459.5:c.359_459del | ENSP00000435889.1:p.Ala120ValfsTer? | |
| ENST00000475516.5:c.*755_*855del | ENSP00000433843.1:n.*755_*855del | |
| ENST00000481571.5:c.*755_*855del | ENSP00000436597.1:n.*755_*855del | |
| ENST00000482094.5:n.263_363del | ||
| ENST00000488731.6:c.188-265_188-165del | ENSP00000432330.1:n.188-265_188-165del | |
| ENST00000528013.6:c.984_1084del | ENSP00000433130.2:p.Leu329SerfsTer? | |
| ENST00000529892.5:c.177+202_178-165del | ||
| ENST00000529984.5:c.188-265_188-165del | ENSP00000437093.1:n.188-265_188-165del | |
| ENST00000531105.5:c.116-2384_116-2284del | ENSP00000431292.1:n.116-2384_116-2284del | |
| ENST00000533178.5:c.571_671del | ENSP00000436430.1:n.571_671del | |
| NM_001048171.1:c.984_1084del | NP_001041636.1:p.Leu329SerfsTer? | |
| NM_001048172.1:c.945_1045del | NP_001041637.1:p.Leu316SerfsTer? | |
| NM_001048173.1:c.942_1042del | NP_001041638.1:p.Leu315SerfsTer? | |
| NM_001048174.1:c.942_1042del | NP_001041639.1:p.Leu315SerfsTer? | |
| NM_001128425.1:c.1026_1126del , LRG_220t1:c.1026_1126del | NP_001121897.1:p.Leu343SerfsTer? | |
| NM_001293190.1:c.987_1087del | NP_001280119.1:p.Leu330SerfsTer? | |
| NM_001293191.1:c.975_1075del | NP_001280120.1:p.Leu326SerfsTer? | |
| NM_001293192.1:c.666_766del | NP_001280121.1:p.Leu223SerfsTer? | |
| NM_001293195.1:c.942_1042del | NP_001280124.1:p.Leu315SerfsTer? | |
| NM_001293196.1:c.666_766del | NP_001280125.1:p.Leu223SerfsTer? | |
| NM_012222.2:c.1017_1117del | NP_036354.1:p.Leu340SerfsTer? | |
| XM_011541497.1:c.1002_1102del | XP_011539799.1:p.Leu335SerfsTer? | |
| XM_011541498.1:c.984_1084del | XP_011539800.1:p.Leu329SerfsTer? | |
| XM_011541499.1:c.984_1084del | XP_011539801.1:p.Leu329SerfsTer? | |
| XM_011541500.1:c.984_1084del | XP_011539802.1:p.Leu329SerfsTer? | |
| XM_011541501.1:c.984_1084del | XP_011539803.1:p.Leu329SerfsTer? | |
| XM_011541502.1:c.984_1084del | XP_011539804.1:p.Leu329SerfsTer? | |
| XM_011541503.1:c.984_1084del | XP_011539805.1:p.Leu329SerfsTer? | |
| XM_011541504.1:c.975_1075del | XP_011539806.1:p.Leu326SerfsTer? | |
| XM_011541505.1:c.564_664del | XP_011539807.1:p.Leu189SerfsTer? | |
| XM_011541506.1:c.564_664del | XP_011539808.1:p.Leu189SerfsTer? | |
| XM_011541507.1:c.555_655del | XP_011539809.1:p.Leu186SerfsTer? | |
| XM_011541508.1:c.570_670del | XP_011539810.1:p.Leu191SerfsTer? | |
| XR_946658.1:n.1073_1173del | ||
| NM_001350650.1:c.597_697del | NP_001337579.1:p.Leu200SerfsTer? | |
| NM_001350651.1:c.597_697del | NP_001337580.1:p.Leu200SerfsTer? | |
| NR_146882.1:n.1200_1300del | ||
| NR_146883.1:n.1014_1114del | ||
| XM_011541497.3:c.1002_1102del | XP_011539799.1:p.Leu335SerfsTer? | |
| XM_011541500.3:c.984_1084del | XP_011539802.1:p.Leu329SerfsTer? | |
| XM_011541501.2:c.984_1084del | XP_011539803.1:p.Leu329SerfsTer? | |
| XM_011541502.2:c.984_1084del | XP_011539804.1:p.Leu329SerfsTer? | |
| XM_011541503.2:c.984_1084del | XP_011539805.1:p.Leu329SerfsTer? | |
| XM_011541504.2:c.975_1075del | XP_011539806.1:p.Leu326SerfsTer? | |
| XM_011541505.2:c.564_664del | XP_011539807.1:p.Leu189SerfsTer? | |
| XM_011541506.2:c.564_664del | XP_011539808.1:p.Leu189SerfsTer? | |
| XM_017001331.1:c.984_1084del | XP_016856820.1:p.Leu329SerfsTer? | |
| XM_017001332.1:c.984_1084del | XP_016856821.1:p.Leu329SerfsTer? | |
| XM_017001333.1:c.984_1084del | XP_016856822.1:p.Leu329SerfsTer? | |
| XM_017001334.1:c.945_1045del | XP_016856823.1:p.Leu316SerfsTer? | |
| XM_017001335.1:c.666_766del | XP_016856824.1:p.Leu223SerfsTer? | |
| XM_017001336.1:c.597_697del | XP_016856825.1:p.Leu200SerfsTer? | |
| XM_017001337.1:c.597_697del | XP_016856826.1:p.Leu200SerfsTer? | |
| XM_024447244.1:c.597_697del | XP_024303012.1:p.Leu200SerfsTer? | |
| XM_024447245.1:c.597_697del | XP_024303013.1:p.Leu200SerfsTer? | |
| XM_024447248.1:c.555_655del | XP_024303016.1:p.Leu186SerfsTer? | |
| XM_024447249.1:c.426_526del | XP_024303017.1:p.Leu143SerfsTer? | |
| XM_024447250.1:c.426_526del | XP_024303018.1:p.Leu143SerfsTer? | |
| XM_024447251.1:c.426_526del | XP_024303019.1:p.Leu143SerfsTer? | |
| XR_001737190.1:n.987_1087del | ||
| XR_001737192.1:n.799_899del | ||
| XR_002956643.1:n.979_1079del | ||
| XR_002956644.1:n.1514_1614del | ||
| XR_946658.2:n.1087_1187del | ||
| NM_001048171.2:c.942_1042del | NP_001041636.2:p.Leu315SerfsTer? | |
| NM_001128425.2:c.1026_1126del MANE Plus Clinical | NP_001121897.1:p.Leu343SerfsTer? | |
| NM_001048172.2:c.945_1045del | NP_001041637.1:p.Leu316SerfsTer? | |
| NM_001048173.2:c.942_1042del | NP_001041638.1:p.Leu315SerfsTer? | |
| NM_001048174.2:c.942_1042del MANE Select | NP_001041639.1:p.Leu315SerfsTer? | |
| NM_001293190.2:c.987_1087del | NP_001280119.1:p.Leu330SerfsTer? | |
| NM_001293191.2:c.975_1075del | NP_001280120.1:p.Leu326SerfsTer? | |
| NM_001293192.2:c.666_766del | NP_001280121.1:p.Leu223SerfsTer? | |
| NM_001293195.2:c.942_1042del | NP_001280124.1:p.Leu315SerfsTer? | |
| NM_001293196.2:c.666_766del | NP_001280125.1:p.Leu223SerfsTer? | |
| NM_001350650.2:c.597_697del | NP_001337579.1:p.Leu200SerfsTer? | |
| NM_001350651.2:c.597_697del | NP_001337580.1:p.Leu200SerfsTer? | |
| NM_012222.3:c.1017_1117del | NP_036354.1:p.Leu340SerfsTer? | |
| NR_146882.2:n.1170_1270del | ||
| NR_146883.2:n.1019_1119del |