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
ClinVar Variation Id:
91376
ClinVar RCV Id:
RCV000076895
RCV000165221
RCV000411556
RCV000627706
RCV000657185
RCV001255504
RCV003415836
dbSNP Id:
rs63750246
gnomAD v4:
7-5995573-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5995575_5995576del , CM000669.2:g.5995575_5995576del | GRCh38 |
| NC_000007.13:g.6035206_6035207del , CM000669.1:g.6035206_6035207del | GRCh37 |
| NC_000007.12:g.6001732_6001733del | NCBI36 |
| NG_008466.1:g.18532_18533del , LRG_161:g.18532_18533del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*300-3518_*300-3517del | ENSP00000514615.2:n.*300-3518_*300-3517de... | |
| ENST00000699840.2:c.859_860del | ENSP00000514638.2:p.Gln287ValfsTer10 | |
| ENST00000699930.2:c.754_755del | ENSP00000514695.2:p.Gln252ValfsTer10 | |
| ENST00000406569.8:c.862_863del | ENSP00000514464.1:p.Gln288ValfsTer10 | |
| ENST00000644110.2:c.*456_*457del | ENSP00000496392.2:n.*456_*457del | |
| ENST00000699752.1:c.862_863del | ENSP00000514561.1:p.Gln288ValfsTer10 | |
| ENST00000699753.1:c.*202+1751_*202+1752del | ENSP00000514562.1:n.*202+1751_*202+1752de... | |
| ENST00000699754.1:c.706-3518_706-3517del | ENSP00000514563.1:n.706-3518_706-3517del | |
| ENST00000699755.1:c.*261_*262del | ENSP00000514564.1:n.*261_*262del | |
| ENST00000699756.1:c.*449_*450del | ENSP00000514565.1:n.*449_*450del | |
| ENST00000699757.1:c.*119_*120del | ENSP00000514566.1:n.*119_*120del | |
| ENST00000699758.1:c.*119_*120del | ENSP00000514567.1:n.*119_*120del | |
| ENST00000699759.1:n.934_935del | ||
| ENST00000699760.1:c.544_545del | ENSP00000514568.1:p.Gln182ValfsTer10 | |
| ENST00000699761.1:c.457_458del | ENSP00000514569.1:p.Gln153ValfsTer10 | |
| ENST00000699762.1:c.289_290del | ENSP00000514570.1:p.Gln97ValfsTer10 | |
| ENST00000699763.1:c.457_458del | ENSP00000514571.1:p.Gln153ValfsTer10 | |
| ENST00000699764.1:c.862_863del | ENSP00000514572.1:p.Gln288ValfsTer10 | |
| ENST00000699765.1:c.485+1751_485+1752del | ENSP00000514573.1:n.485+1751_485+1752del | |
| ENST00000699766.1:c.862_863del | ENSP00000514574.1:p.Gln288ValfsTer10 | |
| ENST00000699767.1:c.862_863del | ENSP00000514575.1:p.Gln288ValfsTer10 | |
| ENST00000699768.1:c.862_863del | ENSP00000514576.1:p.Gln288ValfsTer10 | |
| ENST00000699811.1:c.457_458del | ENSP00000514614.1:p.Gln153ValfsTer10 | |
| ENST00000699813.1:n.975_976del | ||
| ENST00000699814.1:c.527-3518_527-3517del | ||
| ENST00000699815.1:c.*305-971_*305-970del | ENSP00000514616.1:n.*305-971_*305-970del | |
| ENST00000699816.1:c.457_458del | ENSP00000514617.1:p.Gln153ValfsTer10 | |
| ENST00000699817.1:c.*456_*457del | ENSP00000514618.1:n.*456_*457del | |
| ENST00000699818.1:c.457_458del | ENSP00000514619.1:p.Gln153ValfsTer10 | |
| ENST00000699819.1:c.*60+1751_*60+1752del | ENSP00000514620.1:n.*60+1751_*60+1752del | |
| ENST00000699820.1:c.862_863del | ENSP00000514621.1:p.Gln288ValfsTer10 | |
| ENST00000699821.1:c.457_458del | ENSP00000514622.1:p.Gln153ValfsTer10 | |
| ENST00000699822.1:c.*314_*315del | ENSP00000514623.1:n.*314_*315del | |
| ENST00000699823.1:c.457_458del | ENSP00000514624.1:p.Gln153ValfsTer10 | |
| ENST00000699824.1:c.*365_*366del | ENSP00000514625.1:n.*365_*366del | |
| ENST00000699825.1:c.457_458del | ENSP00000514626.1:p.Gln153ValfsTer10 | |
| ENST00000699826.1:c.*261_*262del | ENSP00000514627.1:n.*261_*262del | |
| ENST00000699827.1:c.694_695del | ENSP00000514628.1:p.Gln232ValfsTer10 | |
| ENST00000699828.1:c.862_863del | ENSP00000514629.1:p.Gln288ValfsTer10 | |
| ENST00000699829.1:c.*363_*364del | ENSP00000514630.1:n.*363_*364del | |
| ENST00000699830.1:c.*261_*262del | ENSP00000514631.1:n.*261_*262del | |
| ENST00000699833.1:n.2634_2635del | ||
| ENST00000699837.1:c.457_458del | ENSP00000514635.1:p.Gln153ValfsTer10 | |
| ENST00000699838.1:c.*762_*763del | ENSP00000514636.1:n.*762_*763del | |
| ENST00000699839.1:c.1048_1049del | ENSP00000514637.1:p.Gln350ValfsTer10 | |
| ENST00000699840.1:c.859_860del | ENSP00000514638.1:p.Gln287ValfsTer10 | |
| ENST00000699916.1:c.*119_*120del | ENSP00000514684.1:n.*119_*120del | |
| ENST00000699917.1:c.*311_*312del | ENSP00000514685.1:n.*311_*312del | |
| ENST00000699918.1:c.*363_*364del | ENSP00000514686.1:n.*363_*364del | |
| ENST00000699919.1:c.*449_*450del | ENSP00000514687.1:n.*449_*450del | |
| ENST00000699920.1:c.*498_*499del | ENSP00000514688.1:n.*498_*499del | |
| ENST00000699928.1:c.862_863del | ENSP00000514693.1:p.Gln288ValfsTer10 | |
| ENST00000699929.1:c.*163_*164del | ENSP00000514694.1:n.*163_*164del | |
| ENST00000699930.1:c.754_755del | ENSP00000514695.1:p.Gln252ValfsTer10 | |
| ENST00000699931.1:n.973_974del | ||
| ENST00000699932.1:c.803+1751_803+1752del | ENSP00000514696.1:n.803+1751_803+1752del | |
| ENST00000699933.1:n.883+1751_883+1752del | ||
| ENST00000699951.1:c.803+1751_803+1752del | ENSP00000514706.1:n.803+1751_803+1752del | |
| ENST00000699952.1:c.803+1751_803+1752del | ENSP00000514707.1:n.803+1751_803+1752del | |
| ENST00000699953.1:c.764_765del | ENSP00000514708.1:p.Thr255SerfsTer19 | |
| ENST00000699954.1:c.*163_*164del | ENSP00000514709.1:n.*163_*164del | |
| ENST00000265849.12:c.862_863del MANE Select | ENSP00000265849.7:p.Gln288ValfsTer10 | |
| ENST00000642292.1:c.457_458del | ENSP00000495524.1:p.Gln153ValfsTer10 | |
| ENST00000642456.1:c.457_458del | ENSP00000493814.1:p.Gln153ValfsTer10 | |
| ENST00000643595.1:c.*261_*262del | ENSP00000494497.1:n.*261_*262del | |
| ENST00000644110.1:c.544_545del | ENSP00000496392.1:p.Gln182ValfsTer10 | |
| ENST00000265849.11:c.862_863del | ENSP00000265849.7:p.Gln288ValfsTer10 | |
| ENST00000382321.5:c.803+1751_803+1752del | ENSP00000371758.4:n.803+1751_803+1752del | |
| ENST00000406569.7:n.862_863del | ||
| ENST00000441476.6:c.544_545del | ENSP00000392843.2:p.Gln182ValfsTer10 | |
| ENST00000469652.1:n.62+10418_62+10419del | ||
| NM_000535.5:c.862_863del , LRG_161t1:c.862_863del | NP_000526.1:p.Gln288ValfsTer10 | |
| NR_003085.2:n.944_945del | ||
| XM_006715742.2:c.856_857del | XP_006715805.1:p.Gln286ValfsTer10 | |
| XM_011515427.1:c.907_908del | XP_011513729.1:p.Gln303ValfsTer10 | |
| XM_011515428.1:c.907_908del | XP_011513730.1:p.Gln303ValfsTer10 | |
| XM_011515429.1:c.544_545del | XP_011513731.1:p.Gln182ValfsTer10 | |
| XM_011515430.1:c.544_545del | XP_011513732.1:p.Gln182ValfsTer10 | |
| NM_000535.6:c.862_863del | NP_000526.2:p.Gln288ValfsTer10 | |
| NM_001322003.1:c.457_458del | NP_001308932.1:p.Gln153ValfsTer10 | |
| NM_001322004.1:c.457_458del | NP_001308933.1:p.Gln153ValfsTer10 | |
| NM_001322005.1:c.457_458del | NP_001308934.1:p.Gln153ValfsTer10 | |
| NM_001322006.1:c.862_863del | NP_001308935.1:p.Gln288ValfsTer10 | |
| NM_001322007.1:c.544_545del | NP_001308936.1:p.Gln182ValfsTer10 | |
| NM_001322008.1:c.544_545del | NP_001308937.1:p.Gln182ValfsTer10 | |
| NM_001322009.1:c.457_458del | NP_001308938.1:p.Gln153ValfsTer10 | |
| NM_001322010.1:c.457_458del | NP_001308939.1:p.Gln153ValfsTer10 | |
| NM_001322011.1:c.-72_-71del | NP_001308940.1:n.-72_-71del | |
| NM_001322012.1:c.-72_-71del | NP_001308941.1:n.-72_-71del | |
| NM_001322013.1:c.289_290del | NP_001308942.1:p.Gln97ValfsTer10 | |
| NM_001322014.1:c.862_863del | NP_001308943.1:p.Gln288ValfsTer10 | |
| NM_001322015.1:c.553_554del | NP_001308944.1:p.Gln185ValfsTer10 | |
| NR_136154.1:n.949_950del | ||
| XM_017012342.2:c.-31+1751_-31+1752del | XP_016867831.1:n.-31+1751_-31+1752del | |
| XM_024446800.1:c.457_458del | XP_024302568.1:p.Gln153ValfsTer10 | |
| NM_000535.7:c.862_863del MANE Select | NP_000526.2:p.Gln288ValfsTer10 | |
| NM_001322003.2:c.457_458del | NP_001308932.1:p.Gln153ValfsTer10 | |
| NM_001322004.2:c.457_458del | NP_001308933.1:p.Gln153ValfsTer10 | |
| NM_001322005.2:c.457_458del | NP_001308934.1:p.Gln153ValfsTer10 | |
| NM_001322006.2:c.862_863del | NP_001308935.1:p.Gln288ValfsTer10 | |
| NM_001322008.2:c.544_545del | NP_001308937.1:p.Gln182ValfsTer10 | |
| NM_001322009.2:c.457_458del | NP_001308938.1:p.Gln153ValfsTer10 | |
| NM_001322010.2:c.457_458del | NP_001308939.1:p.Gln153ValfsTer10 | |
| NM_001322011.2:c.-72_-71del | NP_001308940.1:n.-72_-71del | |
| NM_001322012.2:c.-72_-71del | NP_001308941.1:n.-72_-71del | |
| NM_001322013.2:c.289_290del | NP_001308942.1:p.Gln97ValfsTer10 | |
| NM_001322014.2:c.862_863del | NP_001308943.1:p.Gln288ValfsTer10 | |
| NM_001322015.2:c.553_554del | NP_001308944.1:p.Gln185ValfsTer10 | |
| NM_001322007.2:c.544_545del | NP_001308936.1:p.Gln182ValfsTer10 |