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.
Linked Data
COSMIC:
COSM27903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.54727433_54727464delinsTTCCAACAACCTTCCACTGT , CM000666.2:g.54727433_54727464delinsTTCCAACAACCTTCCACTGT | GRCh38 |
| NC_000004.11:g.55593599_55593630delinsTTCCAACAACCTTCCACTGT , CM000666.1:g.55593599_55593630delinsTTCCAACAACCTTCCACTGT | GRCh37 |
| NC_000004.10:g.55288356_55288387delinsTTCCAACAACCTTCCACTGT | NCBI36 |
| NG_007456.1:g.74439_74470delinsTTCCAACAACCTTCCACTGT , LRG_307:g.74439_74470delinsTTCCAACAACCTTCCACTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412167.7:c.1656_1687delinsTTCCAACAACCTTCCACTGT | ENSP00000390987.3:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000685269.1:n.1743_1774delinsTTCCAACAACCTTCCACTGT | ||
| ENST00000686011.1:c.1653_1684delinsTTCCAACAACCTTCCACTGT | ENSP00000509704.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000687109.1:c.1668_1699delinsTTCCAACAACCTTCCACTGT | ENSP00000509371.1:p.Gln557_Asn567delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000687208.1:n.2080_2111delinsTTCCAACAACCTTCCACTGT | ||
| ENST00000687246.1:c.1653_1684delinsTTCCAACAACCTTCCACTGT | ENSP00000509114.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000687265.1:n.1823_1854delinsTTCCAACAACCTTCCACTGT | ||
| ENST00000687295.1:c.1653_1684delinsTTCCAACAACCTTCCACTGT | ENSP00000509450.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000689832.1:c.1668_1699delinsTTCCAACAACCTTCCACTGT | ENSP00000509084.1:p.Gln557_Asn567delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000689994.1:c.1155_1186delinsTTCCAACAACCTTCCACTGT | ENSP00000509156.1:p.Gln386_Asn396delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000690543.1:c.1656_1687delinsTTCCAACAACCTTCCACTGT | ENSP00000508831.1:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000690917.1:n.1883_1914delinsTTCCAACAACCTTCCACTGT | ||
| ENST00000691361.1:n.575_606delinsTTCCAACAACCTTCCACTGT | ||
| ENST00000692783.1:c.1665_1696delinsTTCCAACAACCTTCCACTGT | ENSP00000508733.1:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000692991.1:n.1762_1793delinsTTCCAACAACCTTCCACTGT | ||
| ENST00000288135.6:c.1665_1696delinsTTCCAACAACCTTCCACTGT MANE Select | ENSP00000288135.6:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000288135.5:c.1665_1696delinsTTCCAACAACCTTCCACTGT | ENSP00000288135.5:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| ENST00000412167.6:c.1653_1684delinsTTCCAACAACCTTCCACTGT | ENSP00000390987.2:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| NM_000222.2:c.1665_1696delinsTTCCAACAACCTTCCACTGT , LRG_307t1:c.1665_1696delinsTTCCAACAACCTTCCACTGT | NP_000213.1:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| NM_001093772.1:c.1653_1684delinsTTCCAACAACCTTCCACTGT | NP_001087241.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| XM_005265740.1:c.1668_1699delinsTTCCAACAACCTTCCACTGT | XP_005265797.1:p.Gln557_Asn567delinsSerAsnAsnLeuProLeuTyr | |
| XM_005265741.1:c.1668_1699delinsTTCCAACAACCTTCCACTGT | XP_005265798.1:p.Gln557_Asn567delinsSerAsnAsnLeuProLeuTyr | |
| XM_005265742.1:c.1656_1687delinsTTCCAACAACCTTCCACTGT | XP_005265799.1:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr | |
| XM_005265742.3:c.1656_1687delinsTTCCAACAACCTTCCACTGT | XP_005265799.1:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr | |
| XM_017008178.1:c.1665_1696delinsTTCCAACAACCTTCCACTGT | XP_016863667.1:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| XM_017008179.1:c.1656_1687delinsTTCCAACAACCTTCCACTGT | XP_016863668.1:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr | |
| XM_017008180.1:c.1653_1684delinsTTCCAACAACCTTCCACTGT | XP_016863669.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| NM_000222.3:c.1665_1696delinsTTCCAACAACCTTCCACTGT MANE Select | NP_000213.1:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| NM_001093772.2:c.1653_1684delinsTTCCAACAACCTTCCACTGT | NP_001087241.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| NM_001385284.1:c.1668_1699delinsTTCCAACAACCTTCCACTGT | NP_001372213.1:p.Gln557_Asn567delinsSerAsnAsnLeuProLeuTyr | |
| NM_001385285.1:c.1665_1696delinsTTCCAACAACCTTCCACTGT | NP_001372214.1:p.Gln556_Asn566delinsSerAsnAsnLeuProLeuTyr | |
| NM_001385286.1:c.1653_1684delinsTTCCAACAACCTTCCACTGT | NP_001372215.1:p.Gln552_Asn562delinsSerAsnAsnLeuProLeuTyr | |
| NM_001385288.1:c.1656_1687delinsTTCCAACAACCTTCCACTGT | NP_001372217.1:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr | |
| NM_001385290.1:c.1668_1699delinsTTCCAACAACCTTCCACTGT | NP_001372219.1:p.Gln557_Asn567delinsSerAsnAsnLeuProLeuTyr | |
| NM_001385292.1:c.1656_1687delinsTTCCAACAACCTTCCACTGT | NP_001372221.1:p.Gln553_Asn563delinsSerAsnAsnLeuProLeuTyr |