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_000007.14:g.5989817_5989820delinsGGCT , CM000669.2:g.5989817_5989820delinsGGCT | GRCh38 |
| NC_000007.13:g.6029448_6029451delinsGGCT , CM000669.1:g.6029448_6029451delinsGGCT | GRCh37 |
| NC_000007.12:g.5995974_5995977delinsGGCT | NCBI36 |
| NG_008466.1:g.24287_24290delinsAGCC , LRG_161:g.24287_24290delinsAGCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*520_*523delinsAGCC | ENSP00000514615.2:n.*520_*523delinsAGCC | |
| ENST00000699840.2:c.1121_1124delinsAGCC | ENSP00000514638.2:p.Gln374= | |
| ENST00000699930.2:c.1016_1019delinsAGCC | ENSP00000514695.2:p.Gln339= | |
| ENST00000406569.8:c.1124_1127delinsAGCC | ENSP00000514464.1:p.Gln375= | |
| ENST00000644110.2:c.*718_*721delinsAGCC | ENSP00000496392.2:n.*718_*721delinsAGCC | |
| ENST00000699752.1:c.988+2153_988+2156delinsAGCC | ENSP00000514561.1:n.988+2153_988+2156deli... | |
| ENST00000699753.1:c.*545_*548delinsAGCC | ENSP00000514562.1:n.*545_*548delinsAGCC | |
| ENST00000699754.1:c.926_929delinsAGCC | ENSP00000514563.1:p.Gln309= | |
| ENST00000699755.1:c.*523_*526delinsAGCC | ENSP00000514564.1:n.*523_*526delinsAGCC | |
| ENST00000699756.1:c.*711_*714delinsAGCC | ENSP00000514565.1:n.*711_*714delinsAGCC | |
| ENST00000699757.1:c.*381_*384delinsAGCC | ENSP00000514566.1:n.*381_*384delinsAGCC | |
| ENST00000699758.1:c.*381_*384delinsAGCC | ENSP00000514567.1:n.*381_*384delinsAGCC | |
| ENST00000699759.1:n.1978_1981delinsAGCC | ||
| ENST00000699760.1:c.806_809delinsAGCC | ENSP00000514568.1:p.Gln269= | |
| ENST00000699761.1:c.719_722delinsAGCC | ENSP00000514569.1:p.Gln240= | |
| ENST00000699762.1:c.551_554delinsAGCC | ENSP00000514570.1:p.Gln184= | |
| ENST00000699763.1:c.*214_*217delinsAGCC | ENSP00000514571.1:n.*214_*217delinsAGCC | |
| ENST00000699764.1:c.1124_1127delinsAGCC | ENSP00000514572.1:p.Gln375= | |
| ENST00000699765.1:c.*220_*223delinsAGCC | ENSP00000514573.1:n.*220_*223delinsAGCC | |
| ENST00000699766.1:c.1124_1127delinsAGCC | ENSP00000514574.1:p.Gln375= | |
| ENST00000699767.1:c.1124_1127delinsAGCC | ENSP00000514575.1:p.Gln375= | |
| ENST00000699768.1:c.1124_1127delinsAGCC | ENSP00000514576.1:p.Gln375= | |
| ENST00000699811.1:c.719_722delinsAGCC | ENSP00000514614.1:p.Gln240= | |
| ENST00000699813.1:n.1237_1240delinsAGCC | ||
| ENST00000699814.1:c.747_750delinsAGCC | ||
| ENST00000699815.1:c.*616_*619delinsAGCC | ENSP00000514616.1:n.*616_*619delinsAGCC | |
| ENST00000699816.1:c.719_722delinsAGCC | ENSP00000514617.1:p.Gln240= | |
| ENST00000699817.1:c.*718_*721delinsAGCC | ENSP00000514618.1:n.*718_*721delinsAGCC | |
| ENST00000699818.1:c.719_722delinsAGCC | ENSP00000514619.1:p.Gln240= | |
| ENST00000699819.1:c.*281_*284delinsAGCC | ENSP00000514620.1:n.*281_*284delinsAGCC | |
| ENST00000699820.1:c.1124_1127delinsAGCC | ENSP00000514621.1:p.Gln375= | |
| ENST00000699821.1:c.719_722delinsAGCC | ENSP00000514622.1:p.Gln240= | |
| ENST00000699822.1:c.*576_*579delinsAGCC | ENSP00000514623.1:n.*576_*579delinsAGCC | |
| ENST00000699823.1:c.719_722delinsAGCC | ENSP00000514624.1:p.Gln240= | |
| ENST00000699824.1:c.*627_*630delinsAGCC | ENSP00000514625.1:n.*627_*630delinsAGCC | |
| ENST00000699825.1:c.583+2153_583+2156delinsAGCC | ENSP00000514626.1:n.583+2153_583+2156deli... | |
| ENST00000699826.1:c.*523_*526delinsAGCC | ENSP00000514627.1:n.*523_*526delinsAGCC | |
| ENST00000699827.1:c.956_959delinsAGCC | ENSP00000514628.1:p.Gln319= | |
| ENST00000699828.1:c.*214_*217delinsAGCC | ENSP00000514629.1:n.*214_*217delinsAGCC | |
| ENST00000699829.1:c.*625_*628delinsAGCC | ENSP00000514630.1:n.*625_*628delinsAGCC | |
| ENST00000699830.1:c.*523_*526delinsAGCC | ENSP00000514631.1:n.*523_*526delinsAGCC | |
| ENST00000699833.1:n.2896_2899delinsAGCC | ||
| ENST00000699837.1:c.719_722delinsAGCC | ENSP00000514635.1:p.Gln240= | |
| ENST00000699838.1:c.*1024_*1027delinsAGCC | ENSP00000514636.1:n.*1024_*1027delinsAGCC... | |
| ENST00000699839.1:c.1310_1313delinsAGCC | ENSP00000514637.1:p.Gln437= | |
| ENST00000699840.1:c.1121_1124delinsAGCC | ENSP00000514638.1:p.Gln374= | |
| ENST00000699916.1:c.*381_*384delinsAGCC | ENSP00000514684.1:n.*381_*384delinsAGCC | |
| ENST00000699917.1:c.*573_*576delinsAGCC | ENSP00000514685.1:n.*573_*576delinsAGCC | |
| ENST00000699918.1:c.*625_*628delinsAGCC | ENSP00000514686.1:n.*625_*628delinsAGCC | |
| ENST00000699919.1:c.*711_*714delinsAGCC | ENSP00000514687.1:n.*711_*714delinsAGCC | |
| ENST00000699920.1:c.*760_*763delinsAGCC | ENSP00000514688.1:n.*760_*763delinsAGCC | |
| ENST00000699928.1:c.988+2153_988+2156delinsAGCC | ENSP00000514693.1:n.988+2153_988+2156deli... | |
| ENST00000699929.1:c.*425_*428delinsAGCC | ENSP00000514694.1:n.*425_*428delinsAGCC | |
| ENST00000699930.1:c.1016_1019delinsAGCC | ENSP00000514695.1:p.Gln339= | |
| ENST00000699931.1:n.2552_2555delinsAGCC | ||
| ENST00000699932.1:c.*342_*345delinsAGCC | ENSP00000514696.1:n.*342_*345delinsAGCC | |
| ENST00000699933.1:n.1104_1107delinsAGCC | ||
| ENST00000699951.1:c.*220_*223delinsAGCC | ENSP00000514706.1:n.*220_*223delinsAGCC | |
| ENST00000699952.1:c.803+7506_803+7509delinsAGCC | ENSP00000514707.1:n.803+7506_803+7509deli... | |
| ENST00000699953.1:c.*231_*234delinsAGCC | ENSP00000514708.1:n.*231_*234delinsAGCC | |
| ENST00000699954.1:c.*425_*428delinsAGCC | ENSP00000514709.1:n.*425_*428delinsAGCC | |
| ENST00000265849.12:c.1124_1127delinsAGCC MANE Select | ENSP00000265849.7:p.Gln375= | |
| ENST00000642292.1:c.719_722delinsAGCC | ENSP00000495524.1:p.Gln240= | |
| ENST00000642456.1:c.719_722delinsAGCC | ENSP00000493814.1:p.Gln240= | |
| ENST00000643595.1:c.*523_*526delinsAGCC | ENSP00000494497.1:n.*523_*526delinsAGCC | |
| ENST00000644110.1:c.806_809delinsAGCC | ENSP00000496392.1:p.Gln269= | |
| ENST00000265849.11:c.1124_1127delinsAGCC | ENSP00000265849.7:p.Gln375= | |
| ENST00000382321.5:c.804-6829_804-6826delinsAGCC | ENSP00000371758.4:n.804-6829_804-6826deli... | |
| ENST00000406569.7:n.1124_1127delinsAGCC | ||
| ENST00000441476.6:c.806_809delinsAGCC | ENSP00000392843.2:p.Gln269= | |
| ENST00000469652.1:n.63-6915_63-6912delinsAGCC | ||
| NM_000535.5:c.1124_1127delinsAGCC , LRG_161t1:c.1124_1127delinsAGCC | NP_000526.1:p.Gln375= | |
| NR_003085.2:n.1206_1209delinsAGCC | ||
| XM_006715742.2:c.1118_1121delinsAGCC | XP_006715805.1:p.Gln373= | |
| XM_006715744.2:c.191_194delinsAGCC | XP_006715807.1:p.Gln64= | |
| XM_011515427.1:c.1169_1172delinsAGCC | XP_011513729.1:p.Gln390= | |
| XM_011515428.1:c.1033+2153_1033+2156delinsAGCC | XP_011513730.1:n.1033+2153_1033+2156delin... | |
| XM_011515429.1:c.806_809delinsAGCC | XP_011513731.1:p.Gln269= | |
| XM_011515430.1:c.806_809delinsAGCC | XP_011513732.1:p.Gln269= | |
| NM_000535.6:c.1124_1127delinsAGCC | NP_000526.2:p.Gln375= | |
| NM_001322003.1:c.719_722delinsAGCC | NP_001308932.1:p.Gln240= | |
| NM_001322004.1:c.719_722delinsAGCC | NP_001308933.1:p.Gln240= | |
| NM_001322005.1:c.719_722delinsAGCC | NP_001308934.1:p.Gln240= | |
| NM_001322006.1:c.988+2153_988+2156delinsAGCC | NP_001308935.1:n.988+2153_988+2156delinsA... | |
| NM_001322007.1:c.806_809delinsAGCC | NP_001308936.1:p.Gln269= | |
| NM_001322008.1:c.806_809delinsAGCC | NP_001308937.1:p.Gln269= | |
| NM_001322009.1:c.719_722delinsAGCC | NP_001308938.1:p.Gln240= | |
| NM_001322010.1:c.583+2153_583+2156delinsAGCC | NP_001308939.1:n.583+2153_583+2156delinsA... | |
| NM_001322011.1:c.191_194delinsAGCC | NP_001308940.1:p.Gln64= | |
| NM_001322012.1:c.191_194delinsAGCC | NP_001308941.1:p.Gln64= | |
| NM_001322013.1:c.551_554delinsAGCC | NP_001308942.1:p.Gln184= | |
| NM_001322014.1:c.1124_1127delinsAGCC | NP_001308943.1:p.Gln375= | |
| NM_001322015.1:c.815_818delinsAGCC | NP_001308944.1:p.Gln272= | |
| NR_136154.1:n.1211_1214delinsAGCC | ||
| XM_006715744.4:c.191_194delinsAGCC | XP_006715807.1:p.Gln64= | |
| XM_017012342.2:c.191_194delinsAGCC | XP_016867831.1:p.Gln64= | |
| XM_024446800.1:c.583+2153_583+2156delinsAGCC | XP_024302568.1:n.583+2153_583+2156delinsA... | |
| NM_000535.7:c.1124_1127delinsAGCC MANE Select | NP_000526.2:p.Gln375= | |
| NM_001322003.2:c.719_722delinsAGCC | NP_001308932.1:p.Gln240= | |
| NM_001322004.2:c.719_722delinsAGCC | NP_001308933.1:p.Gln240= | |
| NM_001322005.2:c.719_722delinsAGCC | NP_001308934.1:p.Gln240= | |
| NM_001322006.2:c.988+2153_988+2156delinsAGCC | NP_001308935.1:n.988+2153_988+2156delinsA... | |
| NM_001322008.2:c.806_809delinsAGCC | NP_001308937.1:p.Gln269= | |
| NM_001322009.2:c.719_722delinsAGCC | NP_001308938.1:p.Gln240= | |
| NM_001322010.2:c.583+2153_583+2156delinsAGCC | NP_001308939.1:n.583+2153_583+2156delinsA... | |
| NM_001322011.2:c.191_194delinsAGCC | NP_001308940.1:p.Gln64= | |
| NM_001322012.2:c.191_194delinsAGCC | NP_001308941.1:p.Gln64= | |
| NM_001322013.2:c.551_554delinsAGCC | NP_001308942.1:p.Gln184= | |
| NM_001322014.2:c.1124_1127delinsAGCC | NP_001308943.1:p.Gln375= | |
| NM_001322015.2:c.815_818delinsAGCC | NP_001308944.1:p.Gln272= | |
| NM_001322007.2:c.806_809delinsAGCC | NP_001308936.1:p.Gln269= |