UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5992015_5992016del , CM000669.2:g.5992015_5992016del | GRCh38 |
| NC_000007.13:g.6031646_6031647del , CM000669.1:g.6031646_6031647del | GRCh37 |
| NC_000007.12:g.5998172_5998173del | NCBI36 |
| NG_008466.1:g.22093_22094del , LRG_161:g.22093_22094del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*343_*344del | ENSP00000514615.2:n.*343_*344del | |
| ENST00000699840.2:c.944_945del | ENSP00000514638.2:p.His315ProfsTer8 | |
| ENST00000699930.2:c.839_840del | ENSP00000514695.2:p.His280ProfsTer8 | |
| ENST00000406569.8:c.947_948del | ENSP00000514464.1:p.His316ProfsTer8 | |
| ENST00000644110.2:c.*541_*542del | ENSP00000496392.2:n.*541_*542del | |
| ENST00000699752.1:c.947_948del | ENSP00000514561.1:p.His316ProfsTer8 | |
| ENST00000699753.1:c.*246_*247del | ENSP00000514562.1:n.*246_*247del | |
| ENST00000699754.1:c.749_750del | ENSP00000514563.1:p.His250ProfsTer8 | |
| ENST00000699755.1:c.*346_*347del | ENSP00000514564.1:n.*346_*347del | |
| ENST00000699756.1:c.*534_*535del | ENSP00000514565.1:n.*534_*535del | |
| ENST00000699757.1:c.*204_*205del | ENSP00000514566.1:n.*204_*205del | |
| ENST00000699758.1:c.*204_*205del | ENSP00000514567.1:n.*204_*205del | |
| ENST00000699759.1:n.1801_1802del | ||
| ENST00000699760.1:c.629_630del | ENSP00000514568.1:p.His210ProfsTer8 | |
| ENST00000699761.1:c.542_543del | ENSP00000514569.1:p.His181ProfsTer8 | |
| ENST00000699762.1:c.374_375del | ENSP00000514570.1:p.His125ProfsTer8 | |
| ENST00000699763.1:c.542_543del | ENSP00000514571.1:p.His181ProfsTer8 | |
| ENST00000699764.1:c.947_948del | ENSP00000514572.1:p.His316ProfsTer8 | |
| ENST00000699765.1:c.*43_*44del | ENSP00000514573.1:n.*43_*44del | |
| ENST00000699766.1:c.947_948del | ENSP00000514574.1:p.His316ProfsTer8 | |
| ENST00000699767.1:c.947_948del | ENSP00000514575.1:p.His316ProfsTer8 | |
| ENST00000699768.1:c.947_948del | ENSP00000514576.1:p.His316ProfsTer8 | |
| ENST00000699811.1:c.542_543del | ENSP00000514614.1:p.His181ProfsTer8 | |
| ENST00000699813.1:n.1060_1061del | ||
| ENST00000699814.1:c.570_571del | ||
| ENST00000699815.1:c.*439_*440del | ENSP00000514616.1:n.*439_*440del | |
| ENST00000699816.1:c.542_543del | ENSP00000514617.1:p.His181ProfsTer8 | |
| ENST00000699817.1:c.*541_*542del | ENSP00000514618.1:n.*541_*542del | |
| ENST00000699818.1:c.542_543del | ENSP00000514619.1:p.His181ProfsTer8 | |
| ENST00000699819.1:c.*104_*105del | ENSP00000514620.1:n.*104_*105del | |
| ENST00000699820.1:c.947_948del | ENSP00000514621.1:p.His316ProfsTer8 | |
| ENST00000699821.1:c.542_543del | ENSP00000514622.1:p.His181ProfsTer8 | |
| ENST00000699822.1:c.*399_*400del | ENSP00000514623.1:n.*399_*400del | |
| ENST00000699823.1:c.542_543del | ENSP00000514624.1:p.His181ProfsTer8 | |
| ENST00000699824.1:c.*450_*451del | ENSP00000514625.1:n.*450_*451del | |
| ENST00000699825.1:c.542_543del | ENSP00000514626.1:p.His181ProfsTer8 | |
| ENST00000699826.1:c.*346_*347del | ENSP00000514627.1:n.*346_*347del | |
| ENST00000699827.1:c.779_780del | ENSP00000514628.1:p.His260ProfsTer8 | |
| ENST00000699828.1:c.947_948del | ENSP00000514629.1:p.His316ProfsTer8 | |
| ENST00000699829.1:c.*448_*449del | ENSP00000514630.1:n.*448_*449del | |
| ENST00000699830.1:c.*346_*347del | ENSP00000514631.1:n.*346_*347del | |
| ENST00000699833.1:n.2719_2720del | ||
| ENST00000699837.1:c.542_543del | ENSP00000514635.1:p.His181ProfsTer8 | |
| ENST00000699838.1:c.*847_*848del | ENSP00000514636.1:n.*847_*848del | |
| ENST00000699839.1:c.1133_1134del | ENSP00000514637.1:p.His378ProfsTer8 | |
| ENST00000699840.1:c.944_945del | ENSP00000514638.1:p.His315ProfsTer8 | |
| ENST00000699916.1:c.*204_*205del | ENSP00000514684.1:n.*204_*205del | |
| ENST00000699917.1:c.*396_*397del | ENSP00000514685.1:n.*396_*397del | |
| ENST00000699918.1:c.*448_*449del | ENSP00000514686.1:n.*448_*449del | |
| ENST00000699919.1:c.*534_*535del | ENSP00000514687.1:n.*534_*535del | |
| ENST00000699920.1:c.*583_*584del | ENSP00000514688.1:n.*583_*584del | |
| ENST00000699928.1:c.947_948del | ENSP00000514693.1:p.His316ProfsTer8 | |
| ENST00000699929.1:c.*248_*249del | ENSP00000514694.1:n.*248_*249del | |
| ENST00000699930.1:c.839_840del | ENSP00000514695.1:p.His280ProfsTer8 | |
| ENST00000699931.1:n.2375_2376del | ||
| ENST00000699932.1:c.*43_*44del | ENSP00000514696.1:n.*43_*44del | |
| ENST00000699933.1:n.927_928del | ||
| ENST00000699951.1:c.*43_*44del | ENSP00000514706.1:n.*43_*44del | |
| ENST00000699952.1:c.803+5312_803+5313del | ENSP00000514707.1:n.803+5312_803+5313del | |
| ENST00000699953.1:c.*54_*55del | ENSP00000514708.1:n.*54_*55del | |
| ENST00000699954.1:c.*248_*249del | ENSP00000514709.1:n.*248_*249del | |
| ENST00000265849.12:c.947_948del MANE Select | ENSP00000265849.7:p.His316ProfsTer8 | |
| ENST00000642292.1:c.542_543del | ENSP00000495524.1:p.His181ProfsTer8 | |
| ENST00000642456.1:c.542_543del | ENSP00000493814.1:p.His181ProfsTer8 | |
| ENST00000643595.1:c.*346_*347del | ENSP00000494497.1:n.*346_*347del | |
| ENST00000644110.1:c.629_630del | ENSP00000496392.1:p.His210ProfsTer8 | |
| ENST00000265849.11:c.947_948del | ENSP00000265849.7:p.His316ProfsTer8 | |
| ENST00000382321.5:c.803+5312_803+5313del | ENSP00000371758.4:n.803+5312_803+5313del | |
| ENST00000406569.7:n.947_948del | ||
| ENST00000441476.6:c.629_630del | ENSP00000392843.2:p.His210ProfsTer8 | |
| ENST00000469652.1:n.63-9109_63-9108del | ||
| NM_000535.5:c.947_948del , LRG_161t1:c.947_948del | NP_000526.1:p.His316ProfsTer8 | |
| NR_003085.2:n.1029_1030del | ||
| XM_006715742.2:c.941_942del | XP_006715805.1:p.His314ProfsTer8 | |
| XM_006715744.2:c.14_15del | XP_006715807.1:p.His5ProfsTer8 | |
| XM_011515427.1:c.992_993del | XP_011513729.1:p.His331ProfsTer8 | |
| XM_011515428.1:c.992_993del | XP_011513730.1:p.His331ProfsTer8 | |
| XM_011515429.1:c.629_630del | XP_011513731.1:p.His210ProfsTer8 | |
| XM_011515430.1:c.629_630del | XP_011513732.1:p.His210ProfsTer8 | |
| NM_000535.6:c.947_948del | NP_000526.2:p.His316ProfsTer8 | |
| NM_001322003.1:c.542_543del | NP_001308932.1:p.His181ProfsTer8 | |
| NM_001322004.1:c.542_543del | NP_001308933.1:p.His181ProfsTer8 | |
| NM_001322005.1:c.542_543del | NP_001308934.1:p.His181ProfsTer8 | |
| NM_001322006.1:c.947_948del | NP_001308935.1:p.His316ProfsTer8 | |
| NM_001322007.1:c.629_630del | NP_001308936.1:p.His210ProfsTer8 | |
| NM_001322008.1:c.629_630del | NP_001308937.1:p.His210ProfsTer8 | |
| NM_001322009.1:c.542_543del | NP_001308938.1:p.His181ProfsTer8 | |
| NM_001322010.1:c.542_543del | NP_001308939.1:p.His181ProfsTer8 | |
| NM_001322011.1:c.14_15del | NP_001308940.1:p.His5ProfsTer8 | |
| NM_001322012.1:c.14_15del | NP_001308941.1:p.His5ProfsTer8 | |
| NM_001322013.1:c.374_375del | NP_001308942.1:p.His125ProfsTer8 | |
| NM_001322014.1:c.947_948del | NP_001308943.1:p.His316ProfsTer8 | |
| NM_001322015.1:c.638_639del | NP_001308944.1:p.His213ProfsTer8 | |
| NR_136154.1:n.1034_1035del | ||
| XM_006715744.4:c.14_15del | XP_006715807.1:p.His5ProfsTer8 | |
| XM_017012342.2:c.14_15del | XP_016867831.1:p.His5ProfsTer8 | |
| XM_024446800.1:c.542_543del | XP_024302568.1:p.His181ProfsTer8 | |
| NM_000535.7:c.947_948del MANE Select | NP_000526.2:p.His316ProfsTer8 | |
| NM_001322003.2:c.542_543del | NP_001308932.1:p.His181ProfsTer8 | |
| NM_001322004.2:c.542_543del | NP_001308933.1:p.His181ProfsTer8 | |
| NM_001322005.2:c.542_543del | NP_001308934.1:p.His181ProfsTer8 | |
| NM_001322006.2:c.947_948del | NP_001308935.1:p.His316ProfsTer8 | |
| NM_001322008.2:c.629_630del | NP_001308937.1:p.His210ProfsTer8 | |
| NM_001322009.2:c.542_543del | NP_001308938.1:p.His181ProfsTer8 | |
| NM_001322010.2:c.542_543del | NP_001308939.1:p.His181ProfsTer8 | |
| NM_001322011.2:c.14_15del | NP_001308940.1:p.His5ProfsTer8 | |
| NM_001322012.2:c.14_15del | NP_001308941.1:p.His5ProfsTer8 | |
| NM_001322013.2:c.374_375del | NP_001308942.1:p.His125ProfsTer8 | |
| NM_001322014.2:c.947_948del | NP_001308943.1:p.His316ProfsTer8 | |
| NM_001322015.2:c.638_639del | NP_001308944.1:p.His213ProfsTer8 | |
| NM_001322007.2:c.629_630del | NP_001308936.1:p.His210ProfsTer8 |