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.148807668_148807683delinsGATCCTCGACGAC , CM000669.2:g.148807668_148807683delinsGATCCTCGACGAC | GRCh38 |
| NC_000007.13:g.148504760_148504775delinsGATCCTCGACGAC , CM000669.1:g.148504760_148504775delinsGATCCTCGACGAC | GRCh37 |
| NC_000007.12:g.148135693_148135708delinsGATCCTCGACGAC | NCBI36 |
| NG_032043.1:g.81667_81682delinsGTCGTCGAGGATC , LRG_531:g.81667_81682delinsGTCGTCGAGGATC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.4119_4134delinsGTCGTCGAGGATC | ||
| ENST00000682317.1:c.*1281_*1296delinsGTCGTCGAGGATC | ENSP00000508286.1:n.*1281_*1296delinsGTCG... | |
| ENST00000683292.1:c.*1115_*1130delinsGTCGTCGAGGATC | ENSP00000507503.1:n.*1115_*1130delinsGTCG... | |
| ENST00000683293.1:n.3938_3953delinsGTCGTCGAGGATC | ||
| ENST00000683744.1:c.*1281_*1296delinsGTCGTCGAGGATC | ENSP00000506949.1:n.*1281_*1296delinsGTCG... | |
| ENST00000684300.1:c.*1281_*1296delinsGTCGTCGAGGATC | ENSP00000508407.1:n.*1281_*1296delinsGTCG... | |
| ENST00000684400.1:n.4206_4221delinsGTCGTCGAGGATC | ||
| ENST00000684436.1:n.2535_2550delinsGTCGTCGAGGATC | ||
| ENST00000684510.1:n.2597_2612delinsGTCGTCGAGGATC | ||
| ENST00000320356.7:c.2219_2234delinsGTCGTCGAGGATC MANE Select | ENSP00000320147.2:p.Lys740_Glu745delinsSe... | |
| ENST00000320356.6:c.2219_2234delinsGTCGTCGAGGATC | ENSP00000320147.2:p.Lys740_Glu745delinsSe... | |
| ENST00000350995.6:c.2087_2102delinsGTCGTCGAGGATC | ENSP00000223193.2:p.Lys696_Glu701delinsSe... | |
| ENST00000460911.5:c.2204_2219delinsGTCGTCGAGGATC | ENSP00000419711.1:p.Lys735_Glu740delinsSe... | |
| ENST00000476773.5:c.2051_2066delinsGTCGTCGAGGATC | ENSP00000419050.1:p.Lys684_Glu689delinsSe... | |
| ENST00000478654.5:c.2051_2066delinsGTCGTCGAGGATC | ENSP00000417062.1:p.Lys684_Glu689delinsSe... | |
| ENST00000483967.5:c.2177_2192delinsGTCGTCGAGGATC | ENSP00000419856.1:p.Lys726_Glu731delinsSe... | |
| ENST00000492143.5:c.*2209_*2224delinsGTCGTCGAGGATC | ENSP00000417377.1:n.*2209_*2224delinsGTCG... | |
| NM_001203247.1:c.2204_2219delinsGTCGTCGAGGATC | NP_001190176.1:p.Lys735_Glu740delinsSerAr... | |
| NM_001203248.1:c.2177_2192delinsGTCGTCGAGGATC | NP_001190177.1:p.Lys726_Glu731delinsSerAr... | |
| NM_001203249.1:c.2051_2066delinsGTCGTCGAGGATC | NP_001190178.1:p.Lys684_Glu689delinsSerAr... | |
| NM_004456.4:c.2219_2234delinsGTCGTCGAGGATC , LRG_531t1:c.2219_2234delinsGTCGTCGAGGATC | NP_004447.2:p.Lys740_Glu745delinsSerArgAr... | |
| NM_152998.2:c.2087_2102delinsGTCGTCGAGGATC | NP_694543.1:p.Lys696_Glu701delinsSerArgAr... | |
| XM_005249962.3:c.2228_2243delinsGTCGTCGAGGATC | XP_005250019.1:p.Lys743_Glu748delinsSerAr... | |
| XM_005249963.3:c.2201_2216delinsGTCGTCGAGGATC | XP_005250020.1:p.Lys734_Glu739delinsSerAr... | |
| XM_005249964.3:c.2075_2090delinsGTCGTCGAGGATC | XP_005250021.1:p.Lys692_Glu697delinsSerAr... | |
| XM_011515883.1:c.2243_2258delinsGTCGTCGAGGATC | XP_011514185.1:p.Lys748_Glu753delinsSerAr... | |
| XM_011515884.1:c.2219_2234delinsGTCGTCGAGGATC | XP_011514186.1:p.Lys740_Glu745delinsSerAr... | |
| XM_011515885.1:c.2216_2231delinsGTCGTCGAGGATC | XP_011514187.1:p.Lys739_Glu744delinsSerAr... | |
| XM_011515886.1:c.2195_2210delinsGTCGTCGAGGATC | XP_011514188.1:p.Lys732_Glu737delinsSerAr... | |
| XM_011515887.1:c.2192_2207delinsGTCGTCGAGGATC | XP_011514189.1:p.Lys731_Glu736delinsSerAr... | |
| XM_011515888.1:c.2192_2207delinsGTCGTCGAGGATC | XP_011514190.1:p.Lys731_Glu736delinsSerAr... | |
| XM_011515889.1:c.2153_2168delinsGTCGTCGAGGATC | XP_011514191.1:p.Lys718_Glu723delinsSerAr... | |
| XM_011515890.1:c.2126_2141delinsGTCGTCGAGGATC | XP_011514192.1:p.Lys709_Glu714delinsSerAr... | |
| XM_011515891.1:c.2120_2135delinsGTCGTCGAGGATC | XP_011514193.1:p.Lys707_Glu712delinsSerAr... | |
| XM_011515892.1:c.2117_2132delinsGTCGTCGAGGATC | XP_011514194.1:p.Lys706_Glu711delinsSerAr... | |
| XM_011515893.1:c.2111_2126delinsGTCGTCGAGGATC | XP_011514195.1:p.Lys704_Glu709delinsSerAr... | |
| XM_011515894.1:c.2102_2117delinsGTCGTCGAGGATC | XP_011514196.1:p.Lys701_Glu706delinsSerAr... | |
| XM_011515895.1:c.2099_2114delinsGTCGTCGAGGATC | XP_011514197.1:p.Lys700_Glu705delinsSerAr... | |
| XM_011515896.1:c.1985_2000delinsGTCGTCGAGGATC | XP_011514198.1:p.Lys662_Glu667delinsSerAr... | |
| XM_011515897.1:c.1892_1907delinsGTCGTCGAGGATC | XP_011514199.1:p.Lys631_Glu636delinsSerAr... | |
| XM_011515898.1:c.1892_1907delinsGTCGTCGAGGATC | XP_011514200.1:p.Lys631_Glu636delinsSerAr... | |
| XR_928101.1:n.515+2583_515+2598delinsGATCCTCGACGAC | ||
| XR_928102.1:n.722+2583_722+2598delinsGATCCTCGACGAC | ||
| XM_005249962.4:c.2228_2243delinsGTCGTCGAGGATC | XP_005250019.1:p.Lys743_Glu748delinsSerAr... | |
| XM_005249963.4:c.2201_2216delinsGTCGTCGAGGATC | XP_005250020.1:p.Lys734_Glu739delinsSerAr... | |
| XM_005249964.4:c.2075_2090delinsGTCGTCGAGGATC | XP_005250021.1:p.Lys692_Glu697delinsSerAr... | |
| XM_011515883.2:c.2243_2258delinsGTCGTCGAGGATC | XP_011514185.1:p.Lys748_Glu753delinsSerAr... | |
| XM_011515884.2:c.2219_2234delinsGTCGTCGAGGATC | XP_011514186.1:p.Lys740_Glu745delinsSerAr... | |
| XM_011515885.2:c.2216_2231delinsGTCGTCGAGGATC | XP_011514187.1:p.Lys739_Glu744delinsSerAr... | |
| XM_011515886.2:c.2195_2210delinsGTCGTCGAGGATC | XP_011514188.1:p.Lys732_Glu737delinsSerAr... | |
| XM_011515887.3:c.2192_2207delinsGTCGTCGAGGATC | XP_011514189.1:p.Lys731_Glu736delinsSerAr... | |
| XM_011515888.2:c.2192_2207delinsGTCGTCGAGGATC | XP_011514190.1:p.Lys731_Glu736delinsSerAr... | |
| XM_011515889.2:c.2153_2168delinsGTCGTCGAGGATC | XP_011514191.1:p.Lys718_Glu723delinsSerAr... | |
| XM_011515890.2:c.2126_2141delinsGTCGTCGAGGATC | XP_011514192.1:p.Lys709_Glu714delinsSerAr... | |
| XM_011515891.3:c.2120_2135delinsGTCGTCGAGGATC | XP_011514193.1:p.Lys707_Glu712delinsSerAr... | |
| XM_011515892.2:c.2117_2132delinsGTCGTCGAGGATC | XP_011514194.1:p.Lys706_Glu711delinsSerAr... | |
| XM_011515893.2:c.2111_2126delinsGTCGTCGAGGATC | XP_011514195.1:p.Lys704_Glu709delinsSerAr... | |
| XM_011515894.2:c.2102_2117delinsGTCGTCGAGGATC | XP_011514196.1:p.Lys701_Glu706delinsSerAr... | |
| XM_011515895.2:c.2099_2114delinsGTCGTCGAGGATC | XP_011514197.1:p.Lys700_Glu705delinsSerAr... | |
| XM_011515896.2:c.1985_2000delinsGTCGTCGAGGATC | XP_011514198.1:p.Lys662_Glu667delinsSerAr... | |
| XM_011515897.2:c.1892_1907delinsGTCGTCGAGGATC | XP_011514199.1:p.Lys631_Glu636delinsSerAr... | |
| XM_011515898.2:c.1892_1907delinsGTCGTCGAGGATC | XP_011514200.1:p.Lys631_Glu636delinsSerAr... | |
| XM_017011817.2:c.2243_2258delinsGTCGTCGAGGATC | XP_016867306.1:p.Lys748_Glu753delinsSerAr... | |
| XM_017011818.1:c.2180_2195delinsGTCGTCGAGGATC | XP_016867307.1:p.Lys727_Glu732delinsSerAr... | |
| XM_017011819.1:c.2102_2117delinsGTCGTCGAGGATC | XP_016867308.1:p.Lys701_Glu706delinsSerAr... | |
| XM_017011820.2:c.2075_2090delinsGTCGTCGAGGATC | XP_016867309.1:p.Lys692_Glu697delinsSerAr... | |
| XM_017011821.1:c.1877_1892delinsGTCGTCGAGGATC | XP_016867310.1:p.Lys626_Glu631delinsSerAr... | |
| XM_024446680.1:c.2105_2120delinsGTCGTCGAGGATC | XP_024302448.1:p.Lys702_Glu707delinsSerAr... | |
| XR_001744581.1:n.4593_4608delinsGTCGTCGAGGATC | ||
| XR_002956413.1:n.5249_5264delinsGTCGTCGAGGATC | ||
| XR_002956414.1:n.5709_5724delinsGTCGTCGAGGATC | ||
| NM_001203247.2:c.2204_2219delinsGTCGTCGAGGATC | NP_001190176.1:p.Lys735_Glu740delinsSerAr... | |
| NM_001203248.2:c.2177_2192delinsGTCGTCGAGGATC | NP_001190177.1:p.Lys726_Glu731delinsSerAr... | |
| NM_001203249.2:c.2051_2066delinsGTCGTCGAGGATC | NP_001190178.1:p.Lys684_Glu689delinsSerAr... | |
| NM_004456.5:c.2219_2234delinsGTCGTCGAGGATC MANE Select | NP_004447.2:p.Lys740_Glu745delinsSerArgAr... | |
| NM_152998.3:c.2087_2102delinsGTCGTCGAGGATC | NP_694543.1:p.Lys696_Glu701delinsSerArgAr... |