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.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.5002539C>A | CA497555208 | INCA1,KIF1C | c.505C>A (p.Arg169=) c.-39+3543G>T (n.-39+3543G>T) | |
| 17 | g.5002539C= | CA2244674541 | INCA1,KIF1C | c.505C= (p.Arg169=) c.-39+3543G= (n.-39+3543G=) | |
| 17 | g.5002539C>G | CA397345967 | INCA1,KIF1C | c.505C>G (p.Arg169Gly) c.-39+3543G>C (n.-39+3543G>C) | |
| 17 | g.5002539C>T | CA150725 | INCA1,KIF1C | c.505C>T (p.Arg169Trp) c.-39+3543G>A (n.-39+3543G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.5002540G>A | CA397345968 | INCA1,KIF1C | c.506G>A (p.Arg169Gln) c.-39+3542C>T (n.-39+3542C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.5002540G>C | CA397345969 | INCA1,KIF1C | c.506G>C (p.Arg169Pro) c.-39+3542C>G (n.-39+3542C>G) | |
| 17 | g.5002540G= | CA2244674545 | INCA1,KIF1C | c.506G= (p.Arg169=) c.-39+3542C= (n.-39+3542C=) | |
| 17 | g.5002540G>T | CA397345970 | INCA1,KIF1C | c.506G>T (p.Arg169Leu) c.-39+3542C>A (n.-39+3542C>A) | |
| 17 | g.5002542del | CA2635613153 | INCA1,KIF1C | c.508del (p.Glu170SerfsTer17) c.-39+3542del (n.-39+3542del) | gnomAD v4 |
| 17 | g.5002541G>A | CA8318588 | INCA1,KIF1C | c.507G>A (p.Arg169=) c.-39+3541C>T (n.-39+3541C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.5002541G>C | CA497555210 | INCA1,KIF1C | c.507G>C (p.Arg169=) c.-39+3541C>G (n.-39+3541C>G) | |
| 17 | g.5002541G= | CA2244674550 | INCA1,KIF1C | c.507G= (p.Arg169=) c.-39+3541C= (n.-39+3541C=) | |
| 17 | g.5002541G>T | CA497555209 | INCA1,KIF1C | c.507G>T (p.Arg169=) c.-39+3541C>A (n.-39+3541C>A) | |
| 17 | g.5002542G>A | CA397345971 | INCA1,KIF1C | c.508G>A (p.Glu170Lys) c.-39+3540C>T (n.-39+3540C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.5002542G>C | CA397345973 | INCA1,KIF1C | c.508G>C (p.Glu170Gln) c.-39+3540C>G (n.-39+3540C>G) | |
| 17 | g.5002542G= | CA2244674555 | INCA1,KIF1C | c.508G= (p.Glu170=) c.-39+3540C= (n.-39+3540C=) | |
| 17 | g.5002542G>T | CA397345972 | INCA1,KIF1C | c.508G>T (p.Glu170Ter) c.-39+3540C>A (n.-39+3540C>A) | |
| 17 | g.5002543A>C | CA397345974 | INCA1,KIF1C | c.509A>C (p.Glu170Ala) c.-39+3539T>G (n.-39+3539T>G) | |
| 17 | g.5002543A>G | CA397345976 | INCA1,KIF1C | c.509A>G (p.Glu170Gly) c.-39+3539T>C (n.-39+3539T>C) | |
| 17 | g.5002543A>T | CA397345975 | INCA1,KIF1C | c.509A>T (p.Glu170Val) c.-39+3539T>A (n.-39+3539T>A) | |
| 17 | g.5002544G>A | CA497555213 | INCA1,KIF1C | c.510G>A (p.Glu170=) c.-39+3538C>T (n.-39+3538C>T) | COSMIC |
| 17 | g.5002544G>C | CA397345977 | INCA1,KIF1C | c.510G>C (p.Glu170Asp) c.-39+3538C>G (n.-39+3538C>G) | |
| 17 | g.5002544G>T | CA397345978 | INCA1,KIF1C | c.510G>T (p.Glu170Asp) c.-39+3538C>A (n.-39+3538C>A) | |
| 17 | g.5002545C>A | CA397345979 | INCA1,KIF1C | c.511C>A (p.His171Asn) c.-39+3537G>T (n.-39+3537G>T) | |
| 17 | g.5002545C>G | CA397345980 | INCA1,KIF1C | c.511C>G (p.His171Asp) c.-39+3537G>C (n.-39+3537G>C) | |
| 17 | g.5002545C>T | CA397345981 | INCA1,KIF1C | c.511C>T (p.His171Tyr) c.-39+3537G>A (n.-39+3537G>A) | gnomAD v4 |
| 17 | g.5002546A>C | CA397345982 | INCA1,KIF1C | c.512A>C (p.His171Pro) c.-39+3536T>G (n.-39+3536T>G) | |
| 17 | g.5002546A>G | CA397345983 | INCA1,KIF1C | c.512A>G (p.His171Arg) c.-39+3536T>C (n.-39+3536T>C) | |
| 17 | g.5002546A>T | CA397345984 | INCA1,KIF1C | c.512A>T (p.His171Leu) c.-39+3536T>A (n.-39+3536T>A) | |
| 17 | g.5002547C>A | CA397345985 | INCA1,KIF1C | c.513C>A (p.His171Gln) c.-39+3535G>T (n.-39+3535G>T) | |
| 17 | g.5002547C>G | CA397345986 | INCA1,KIF1C | c.513C>G (p.His171Gln) c.-39+3535G>C (n.-39+3535G>C) | |
| 17 | g.5002547C>T | CA497555217 | INCA1,KIF1C | c.513C>T (p.His171=) c.-39+3535G>A (n.-39+3535G>A) | |
| 17 | g.5002548C>A | CA397345987 | INCA1,KIF1C | c.514C>A (p.Pro172Thr) c.-39+3534G>T (n.-39+3534G>T) | |
| 17 | g.5002548C>G | CA397345988 | INCA1,KIF1C | c.514C>G (p.Pro172Ala) c.-39+3534G>C (n.-39+3534G>C) | |
| 17 | g.5002548C>T | CA397345989 | INCA1,KIF1C | c.514C>T (p.Pro172Ser) c.-39+3534G>A (n.-39+3534G>A) | gnomAD v4 |
| 17 | g.5002549C>A | CA397345990 | INCA1,KIF1C | c.515C>A (p.Pro172His) c.-39+3533G>T (n.-39+3533G>T) | |
| 17 | g.5002549C>G | CA397345992 | INCA1,KIF1C | c.515C>G (p.Pro172Arg) c.-39+3533G>C (n.-39+3533G>C) | |
| 17 | g.5002549C>T | CA397345991 | INCA1,KIF1C | c.515C>T (p.Pro172Leu) c.-39+3533G>A (n.-39+3533G>A) | COSMIC |
| 17 | g.5002550C>A | CA497555221 | INCA1,KIF1C | c.516C>A (p.Pro172=) c.-39+3532G>T (n.-39+3532G>T) | |
| 17 | g.5002550C>G | CA497555219 | INCA1,KIF1C | c.516C>G (p.Pro172=) c.-39+3532G>C (n.-39+3532G>C) | gnomAD v4 |
| 17 | g.5002550C>T | CA497555220 | INCA1,KIF1C | c.516C>T (p.Pro172=) c.-39+3532G>A (n.-39+3532G>A) | |
| 17 | g.5002551A= | CA2244674557 | INCA1,KIF1C | c.517A= (p.Ile173=) c.-39+3531T= (n.-39+3531T=) | |
| 17 | g.5002551A>C | CA397345993 | INCA1,KIF1C | c.517A>C (p.Ile173Leu) c.-39+3531T>G (n.-39+3531T>G) | |
| 17 | g.5002551A>G | CA397345994 | INCA1,KIF1C | c.517A>G (p.Ile173Val) c.-39+3531T>C (n.-39+3531T>C) | dbSNP gnomAD v4 |
| 17 | g.5002551A>T | CA397345995 | INCA1,KIF1C | c.517A>T (p.Ile173Phe) c.-39+3531T>A (n.-39+3531T>A) | |
| 17 | g.5002552T>A | CA397345996 | INCA1,KIF1C | c.518T>A (p.Ile173Asn) c.-39+3530A>T (n.-39+3530A>T) | |
| 17 | g.5002552T>C | CA397345997 | INCA1,KIF1C | c.518T>C (p.Ile173Thr) c.-39+3530A>G (n.-39+3530A>G) | |
| 17 | g.5002552T>G | CA397345998 | INCA1,KIF1C | c.518T>G (p.Ile173Ser) c.-39+3530A>C (n.-39+3530A>C) | |
| 17 | g.5002552_5002553insA | CA2635613161 | INCA1,KIF1C | c.518_519insA (p.Leu174ProfsTer21) c.-39+3529_-39+3530insT (n.-39+3529_-39+3530insT) | gnomAD v4 |
| 17 | g.5002553C>A | CA497555222 | INCA1,KIF1C | c.519C>A (p.Ile173=) c.-39+3529G>T (n.-39+3529G>T) |