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 |
|---|---|---|---|---|---|
| 11 | g.67490320_67490322dup | CA2614623597 | AIP | c.627_629dup c.461_463dup (p.Gln154_Pro155insGln) n.1162_1164dup c.469-677_469-675dup (n.469-677_469-675dup) c.281_283dup (p.Gln94_Pro95insGln) c.650_652dup (p.Gln217_Pro218insGln) c.473_475dup (p.Gln158_Pro159insGln) c.470_472dup (p.Gln157_Pro158insGln) c.302_304dup (p.Gln101_Pro102insGln) | gnomAD v4 |
| 11 | g.67490322C>A | CA381551479 | AIP | c.629C>A c.463C>A (p.Pro155Thr) n.1164C>A c.469-675C>A (n.469-675C>A) c.283C>A (p.Pro95Thr) c.652C>A (p.Pro218Thr) c.475C>A (p.Pro159Thr) c.472C>A (p.Pro158Thr) c.304C>A (p.Pro102Thr) | |
| 11 | g.67490322C>G | CA381551480 | AIP | c.629C>G c.463C>G (p.Pro155Ala) n.1164C>G c.469-675C>G (n.469-675C>G) c.283C>G (p.Pro95Ala) c.652C>G (p.Pro218Ala) c.475C>G (p.Pro159Ala) c.472C>G (p.Pro158Ala) c.304C>G (p.Pro102Ala) | |
| 11 | g.67490322C>T | CA381551481 | AIP | c.629C>T c.463C>T (p.Pro155Ser) n.1164C>T c.469-675C>T (n.469-675C>T) c.283C>T (p.Pro95Ser) c.652C>T (p.Pro218Ser) c.475C>T (p.Pro159Ser) c.472C>T (p.Pro158Ser) c.304C>T (p.Pro102Ser) | |
| 11 | g.67490323C>A | CA381551484 | AIP | c.630C>A c.464C>A (p.Pro155His) n.1165C>A c.469-674C>A (n.469-674C>A) c.284C>A (p.Pro95His) c.653C>A (p.Pro218His) c.476C>A (p.Pro159His) c.473C>A (p.Pro158His) c.305C>A (p.Pro102His) | |
| 11 | g.67490323C>G | CA381551482 | AIP | c.630C>G c.464C>G (p.Pro155Arg) n.1165C>G c.469-674C>G (n.469-674C>G) c.284C>G (p.Pro95Arg) c.653C>G (p.Pro218Arg) c.476C>G (p.Pro159Arg) c.473C>G (p.Pro158Arg) c.305C>G (p.Pro102Arg) | |
| 11 | g.67490323C>T | CA381551483 | AIP | c.630C>T c.464C>T (p.Pro155Leu) n.1165C>T c.469-674C>T (n.469-674C>T) c.284C>T (p.Pro95Leu) c.653C>T (p.Pro218Leu) c.476C>T (p.Pro159Leu) c.473C>T (p.Pro158Leu) c.305C>T (p.Pro102Leu) | |
| 11 | g.67490324T>A | CA475509180 | AIP | c.631T>A c.465T>A (p.Pro155=) n.1166T>A c.469-673T>A (n.469-673T>A) c.285T>A (p.Pro95=) c.654T>A (p.Pro218=) c.477T>A (p.Pro159=) c.474T>A (p.Pro158=) c.306T>A (p.Pro102=) | |
| 11 | g.67490324T>C | CA475509181 | AIP | c.631T>C c.465T>C (p.Pro155=) n.1166T>C c.469-673T>C (n.469-673T>C) c.285T>C (p.Pro95=) c.654T>C (p.Pro218=) c.477T>C (p.Pro159=) c.474T>C (p.Pro158=) c.306T>C (p.Pro102=) | |
| 11 | g.67490324T>G | CA475509182 | AIP | c.631T>G c.465T>G (p.Pro155=) n.1166T>G c.469-673T>G (n.469-673T>G) c.285T>G (p.Pro95=) c.654T>G (p.Pro218=) c.477T>G (p.Pro159=) c.474T>G (p.Pro158=) c.306T>G (p.Pro102=) | |
| 11 | g.67490325G>A | CA381551485 | AIP | c.632G>A c.466G>A (p.Gly156Arg) n.1167G>A c.469-672G>A (n.469-672G>A) c.286G>A (p.Gly96Arg) c.655G>A (p.Gly219Arg) c.478G>A (p.Gly160Arg) c.475G>A (p.Gly159Arg) c.307G>A (p.Gly103Arg) | |
| 11 | g.67490325G>C | CA381551486 | AIP | c.632G>C c.466G>C (p.Gly156Arg) n.1167G>C c.469-672G>C (n.469-672G>C) c.286G>C (p.Gly96Arg) c.655G>C (p.Gly219Arg) c.478G>C (p.Gly160Arg) c.475G>C (p.Gly159Arg) c.307G>C (p.Gly103Arg) | |
| 11 | g.67490325G>T | CA381551487 | AIP | c.632G>T c.466G>T (p.Gly156Trp) n.1167G>T c.469-672G>T (n.469-672G>T) c.286G>T (p.Gly96Trp) c.655G>T (p.Gly219Trp) c.478G>T (p.Gly160Trp) c.475G>T (p.Gly159Trp) c.307G>T (p.Gly103Trp) | |
| 11 | g.67490326G>A | CA381551488 | AIP | c.633G>A c.467G>A (p.Gly156Glu) n.1168G>A c.469-671G>A (n.469-671G>A) c.287G>A (p.Gly96Glu) c.656G>A (p.Gly219Glu) c.479G>A (p.Gly160Glu) c.476G>A (p.Gly159Glu) c.308G>A (p.Gly103Glu) | |
| 11 | g.67490326G>C | CA381551489 | AIP | c.633G>C c.467G>C (p.Gly156Ala) n.1168G>C c.469-671G>C (n.469-671G>C) c.287G>C (p.Gly96Ala) c.656G>C (p.Gly219Ala) c.479G>C (p.Gly160Ala) c.476G>C (p.Gly159Ala) c.308G>C (p.Gly103Ala) | gnomAD v4 |
| 11 | g.67490326G>T | CA381551490 | AIP | c.633G>T c.467G>T (p.Gly156Val) n.1168G>T c.469-671G>T (n.469-671G>T) c.287G>T (p.Gly96Val) c.656G>T (p.Gly219Val) c.479G>T (p.Gly160Val) c.476G>T (p.Gly159Val) c.308G>T (p.Gly103Val) | COSMIC |
| 11 | g.67490327G>A | CA475509183 | AIP | c.634G>A c.468G>A (p.Gly156=) n.1169G>A c.469-670G>A (n.469-670G>A) c.288G>A (p.Gly96=) c.657G>A (p.Gly219=) c.480G>A (p.Gly160=) c.477G>A (p.Gly159=) c.309G>A (p.Gly103=) | ClinVar |
| 11 | g.67490327G>C | CA475509184 | AIP | c.634G>C c.468G>C (p.Gly156=) n.1169G>C c.469-670G>C (n.469-670G>C) c.288G>C (p.Gly96=) c.657G>C (p.Gly219=) c.480G>C (p.Gly160=) c.477G>C (p.Gly159=) c.309G>C (p.Gly103=) | |
| 11 | g.67490327G>T | CA475509185 | AIP | c.634G>T c.468G>T (p.Gly156=) n.1169G>T c.469-670G>T (n.469-670G>T) c.288G>T (p.Gly96=) c.657G>T (p.Gly219=) c.480G>T (p.Gly160=) c.477G>T (p.Gly159=) c.309G>T (p.Gly103=) | ClinVar gnomAD v4 |
| 11 | g.67490328T>A | CA381551491 | AIP | c.635T>A c.469T>A (p.Ser157Thr) n.1170T>A c.469-669T>A (n.469-669T>A) c.289T>A (p.Ser97Thr) c.658T>A (p.Ser220Thr) c.481T>A (p.Ser161Thr) c.478T>A (p.Ser160Thr) c.310T>A (p.Ser104Thr) | |
| 11 | g.67490328T>C | CA381551492 | AIP | c.635T>C c.469T>C (p.Ser157Pro) n.1170T>C c.469-669T>C (n.469-669T>C) c.289T>C (p.Ser97Pro) c.658T>C (p.Ser220Pro) c.481T>C (p.Ser161Pro) c.478T>C (p.Ser160Pro) c.310T>C (p.Ser104Pro) | |
| 11 | g.67490328T>G | CA381551493 | AIP | c.635T>G c.469T>G (p.Ser157Ala) n.1170T>G c.469-669T>G (n.469-669T>G) c.289T>G (p.Ser97Ala) c.658T>G (p.Ser220Ala) c.481T>G (p.Ser161Ala) c.478T>G (p.Ser160Ala) c.310T>G (p.Ser104Ala) | |
| 11 | g.67490328T= | CA1980172406 | AIP | c.635T= c.469T= (p.Ser157=) n.1170T= c.469-669T= (n.469-669T=) c.289T= (p.Ser97=) c.658T= (p.Ser220=) c.481T= (p.Ser161=) c.478T= (p.Ser160=) c.310T= (p.Ser104=) | |
| 11 | g.67490329C>A | CA381551494 | AIP | c.636C>A c.470C>A (p.Ser157Tyr) n.1171C>A c.469-668C>A (n.469-668C>A) c.290C>A (p.Ser97Tyr) c.659C>A (p.Ser220Tyr) c.482C>A (p.Ser161Tyr) c.479C>A (p.Ser160Tyr) c.311C>A (p.Ser104Tyr) | |
| 11 | g.67490329C= | CA1980172407 | AIP | c.636C= c.470C= (p.Ser157=) n.1171C= c.469-668C= (n.469-668C=) c.290C= (p.Ser97=) c.659C= (p.Ser220=) c.482C= (p.Ser161=) c.479C= (p.Ser160=) c.311C= (p.Ser104=) | |
| 11 | g.67490329C>G | CA381551495 | AIP | c.636C>G c.470C>G (p.Ser157Cys) n.1171C>G c.469-668C>G (n.469-668C>G) c.290C>G (p.Ser97Cys) c.659C>G (p.Ser220Cys) c.482C>G (p.Ser161Cys) c.479C>G (p.Ser160Cys) c.311C>G (p.Ser104Cys) | |
| 11 | g.67490329C>T | CA381551496 | AIP | c.636C>T c.470C>T (p.Ser157Phe) n.1171C>T c.469-668C>T (n.469-668C>T) c.290C>T (p.Ser97Phe) c.659C>T (p.Ser220Phe) c.482C>T (p.Ser161Phe) c.479C>T (p.Ser160Phe) c.311C>T (p.Ser104Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490332dup | CA344150 | AIP | c.639dup c.473dup (p.Glu159Ter) n.1174dup c.469-665dup (n.469-665dup) c.293dup (p.Glu99Ter) c.662dup (p.Glu222Ter) c.485dup (p.Glu163Ter) c.482dup (p.Glu162Ter) c.314dup (p.Glu106Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.67490330C>A | CA475509189 | AIP | c.637C>A c.471C>A (p.Ser157=) n.1172C>A c.469-667C>A (n.469-667C>A) c.291C>A (p.Ser97=) c.660C>A (p.Ser220=) c.483C>A (p.Ser161=) c.480C>A (p.Ser160=) c.312C>A (p.Ser104=) | dbSNP |
| 11 | g.67490330C= | CA1980172408 | AIP | c.637C= c.471C= (p.Ser157=) n.1172C= c.469-667C= (n.469-667C=) c.291C= (p.Ser97=) c.660C= (p.Ser220=) c.483C= (p.Ser161=) c.480C= (p.Ser160=) c.312C= (p.Ser104=) | |
| 11 | g.67490330C>G | CA475509190 | AIP | c.637C>G c.471C>G (p.Ser157=) n.1172C>G c.469-667C>G (n.469-667C>G) c.291C>G (p.Ser97=) c.660C>G (p.Ser220=) c.483C>G (p.Ser161=) c.480C>G (p.Ser160=) c.312C>G (p.Ser104=) | |
| 11 | g.67490330C>T | CA6140906 | AIP | c.637C>T c.471C>T (p.Ser157=) n.1172C>T c.469-667C>T (n.469-667C>T) c.291C>T (p.Ser97=) c.660C>T (p.Ser220=) c.483C>T (p.Ser161=) c.480C>T (p.Ser160=) c.312C>T (p.Ser104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.67490331C>A | CA381551498 | AIP | c.638C>A c.472C>A (p.Pro158Thr) n.1173C>A c.469-666C>A (n.469-666C>A) c.292C>A (p.Pro98Thr) c.661C>A (p.Pro221Thr) c.484C>A (p.Pro162Thr) c.481C>A (p.Pro161Thr) c.313C>A (p.Pro105Thr) | |
| 11 | g.67490331C= | CA1980172409 | AIP | c.638C= c.472C= (p.Pro158=) n.1173C= c.469-666C= (n.469-666C=) c.292C= (p.Pro98=) c.661C= (p.Pro221=) c.484C= (p.Pro162=) c.481C= (p.Pro161=) c.313C= (p.Pro105=) | |
| 11 | g.67490331C>G | CA381551497 | AIP | c.638C>G c.472C>G (p.Pro158Ala) n.1173C>G c.469-666C>G (n.469-666C>G) c.292C>G (p.Pro98Ala) c.661C>G (p.Pro221Ala) c.484C>G (p.Pro162Ala) c.481C>G (p.Pro161Ala) c.313C>G (p.Pro105Ala) | |
| 11 | g.67490331C>T | CA381551499 | AIP | c.638C>T c.472C>T (p.Pro158Ser) n.1173C>T c.469-666C>T (n.469-666C>T) c.292C>T (p.Pro98Ser) c.661C>T (p.Pro221Ser) c.484C>T (p.Pro162Ser) c.481C>T (p.Pro161Ser) c.313C>T (p.Pro105Ser) | ClinVar dbSNP |
| 11 | g.67490332C>A | CA381551500 | AIP | c.639C>A c.473C>A (p.Pro158His) n.1174C>A c.469-665C>A (n.469-665C>A) c.293C>A (p.Pro98His) c.662C>A (p.Pro221His) c.485C>A (p.Pro162His) c.482C>A (p.Pro161His) c.314C>A (p.Pro105His) | |
| 11 | g.67490332C= | CA1980172410 | AIP | c.639C= c.473C= (p.Pro158=) n.1174C= c.469-665C= (n.469-665C=) c.293C= (p.Pro98=) c.662C= (p.Pro221=) c.485C= (p.Pro162=) c.482C= (p.Pro161=) c.314C= (p.Pro105=) | |
| 11 | g.67490332C>G | CA381551501 | AIP | c.639C>G c.473C>G (p.Pro158Arg) n.1174C>G c.469-665C>G (n.469-665C>G) c.293C>G (p.Pro98Arg) c.662C>G (p.Pro221Arg) c.485C>G (p.Pro162Arg) c.482C>G (p.Pro161Arg) c.314C>G (p.Pro105Arg) | |
| 11 | g.67490332C>T | CA381551502 | AIP | c.639C>T c.473C>T (p.Pro158Leu) n.1174C>T c.469-665C>T (n.469-665C>T) c.293C>T (p.Pro98Leu) c.662C>T (p.Pro221Leu) c.485C>T (p.Pro162Leu) c.482C>T (p.Pro161Leu) c.314C>T (p.Pro105Leu) | ClinVar dbSNP gnomAD v2 |
| 11 | g.67490332_67490333delinsCT | CA1980172411 | AIP | c.639_640delinsCT c.473_474delinsCT (p.Pro158=) n.1174_1175delinsCT c.469-665_469-664delinsCT (n.469-665_469-664delinsCT) c.293_294delinsCT (p.Pro98=) c.662_663delinsCT (p.Pro221=) c.485_486delinsCT (p.Pro162=) c.482_483delinsCT (p.Pro161=) c.314_315delinsCT (p.Pro105=) | |
| 11 | g.67490333del | CA1139662046 | AIP | c.640del c.474del (p.Glu159AsnfsTer?) n.1175del c.469-664del (n.469-664del) c.294del (p.Glu99AsnfsTer?) c.663del (p.Glu222AsnfsTer?) c.486del (p.Glu163AsnfsTer?) c.483del (p.Glu162AsnfsTer?) c.315del (p.Glu106AsnfsTer?) | ClinVar dbSNP |
| 11 | g.67490333T>A | CA475509191 | AIP | c.640T>A c.474T>A (p.Pro158=) n.1175T>A c.469-664T>A (n.469-664T>A) c.294T>A (p.Pro98=) c.663T>A (p.Pro221=) c.486T>A (p.Pro162=) c.483T>A (p.Pro161=) c.315T>A (p.Pro105=) | |
| 11 | g.67490333T>C | CA475509192 | AIP | c.640T>C c.474T>C (p.Pro158=) n.1175T>C c.469-664T>C (n.469-664T>C) c.294T>C (p.Pro98=) c.663T>C (p.Pro221=) c.486T>C (p.Pro162=) c.483T>C (p.Pro161=) c.315T>C (p.Pro105=) | ClinVar gnomAD v4 |
| 11 | g.67490333T>G | CA475509193 | AIP | c.640T>G c.474T>G (p.Pro158=) n.1175T>G c.469-664T>G (n.469-664T>G) c.294T>G (p.Pro98=) c.663T>G (p.Pro221=) c.486T>G (p.Pro162=) c.483T>G (p.Pro161=) c.315T>G (p.Pro105=) | |
| 11 | g.67490334G>A | CA381551503 | AIP | c.641G>A c.475G>A (p.Glu159Lys) n.1176G>A c.469-663G>A (n.469-663G>A) c.295G>A (p.Glu99Lys) c.664G>A (p.Glu222Lys) c.487G>A (p.Glu163Lys) c.484G>A (p.Glu162Lys) c.316G>A (p.Glu106Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.67490334G>C | CA381551504 | AIP | c.641G>C c.475G>C (p.Glu159Gln) n.1176G>C c.469-663G>C (n.469-663G>C) c.295G>C (p.Glu99Gln) c.664G>C (p.Glu222Gln) c.487G>C (p.Glu163Gln) c.484G>C (p.Glu162Gln) c.316G>C (p.Glu106Gln) | |
| 11 | g.67490334G= | CA1980172412 | AIP | c.641G= c.475G= (p.Glu159=) n.1176G= c.469-663G= (n.469-663G=) c.295G= (p.Glu99=) c.664G= (p.Glu222=) c.487G= (p.Glu163=) c.484G= (p.Glu162=) c.316G= (p.Glu106=) | |
| 11 | g.67490334G>T | CA381551505 | AIP | c.641G>T c.475G>T (p.Glu159Ter) n.1176G>T c.469-663G>T (n.469-663G>T) c.295G>T (p.Glu99Ter) c.664G>T (p.Glu222Ter) c.487G>T (p.Glu163Ter) c.484G>T (p.Glu162Ter) c.316G>T (p.Glu106Ter) | |
| 11 | g.67490335A>C | CA381551508 | AIP | c.642A>C c.476A>C (p.Glu159Ala) n.1177A>C c.469-662A>C (n.469-662A>C) c.296A>C (p.Glu99Ala) c.665A>C (p.Glu222Ala) c.488A>C (p.Glu163Ala) c.485A>C (p.Glu162Ala) c.317A>C (p.Glu106Ala) |