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 |
|---|---|---|---|---|---|
| 1 | g.99896325del | CA2574444632 | AGL | c.3299del (p.Gly1100GlufsTer13) n.3510del c.3251del (p.Gly1084GlufsTer13) c.3248del (p.Gly1083GlufsTer13) c.1559del (p.Gly520GlufsTer13) | ClinVar gnomAD v4 |
| 1 | g.99896323G>A | CA273998 | AGL | c.3297G>A (p.Trp1099Ter) n.3508G>A c.3249G>A (p.Trp1083Ter) c.3246G>A (p.Trp1082Ter) c.1557G>A (p.Trp519Ter) | ClinVar dbSNP COSMIC |
| 1 | g.99896323G>C | CA341328538 | AGL | c.3297G>C (p.Trp1099Cys) n.3508G>C c.3249G>C (p.Trp1083Cys) c.3246G>C (p.Trp1082Cys) c.1557G>C (p.Trp519Cys) | |
| 1 | g.99896323G= | CA1183935273 | AGL | c.3297G= (p.Trp1099=) n.3508G= c.3249G= (p.Trp1083=) c.3246G= (p.Trp1082=) c.1557G= (p.Trp519=) | |
| 1 | g.99896323G>T | CA341328539 | AGL | c.3297G>T (p.Trp1099Cys) n.3508G>T c.3249G>T (p.Trp1083Cys) c.3246G>T (p.Trp1082Cys) c.1557G>T (p.Trp519Cys) | |
| 1 | g.99896324G>A | CA341328541 | AGL | c.3298G>A (p.Gly1100Arg) n.3509G>A c.3250G>A (p.Gly1084Arg) c.3247G>A (p.Gly1083Arg) c.1558G>A (p.Gly520Arg) | gnomAD v4 |
| 1 | g.99896324G>C | CA341328544 | AGL | c.3298G>C (p.Gly1100Arg) n.3509G>C c.3250G>C (p.Gly1084Arg) c.3247G>C (p.Gly1083Arg) c.1558G>C (p.Gly520Arg) | |
| 1 | g.99896324G>T | CA341328549 | AGL | c.3298G>T (p.Gly1100Ter) n.3509G>T c.3250G>T (p.Gly1084Ter) c.3247G>T (p.Gly1083Ter) c.1558G>T (p.Gly520Ter) | |
| 1 | g.99896325G>A | CA341328552 | AGL | c.3299G>A (p.Gly1100Glu) n.3510G>A c.3251G>A (p.Gly1084Glu) c.3248G>A (p.Gly1083Glu) c.1559G>A (p.Gly520Glu) | ClinVar |
| 1 | g.99896325G>C | CA341328554 | AGL | c.3299G>C (p.Gly1100Ala) n.3510G>C c.3251G>C (p.Gly1084Ala) c.3248G>C (p.Gly1083Ala) c.1559G>C (p.Gly520Ala) | |
| 1 | g.99896325G>T | CA341328553 | AGL | c.3299G>T (p.Gly1100Val) n.3510G>T c.3251G>T (p.Gly1084Val) c.3248G>T (p.Gly1083Val) c.1559G>T (p.Gly520Val) | |
| 1 | g.99896326A>C | CA419087159 | AGL | c.3300A>C (p.Gly1100=) n.3511A>C c.3252A>C (p.Gly1084=) c.3249A>C (p.Gly1083=) c.1560A>C (p.Gly520=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.99896326A>G | CA419087161 | AGL | c.3300A>G (p.Gly1100=) n.3511A>G c.3252A>G (p.Gly1084=) c.3249A>G (p.Gly1083=) c.1560A>G (p.Gly520=) | |
| 1 | g.99896326A>T | CA419087162 | AGL | c.3300A>T (p.Gly1100=) n.3511A>T c.3252A>T (p.Gly1084=) c.3249A>T (p.Gly1083=) c.1560A>T (p.Gly520=) | gnomAD v4 |
| 1 | g.99896327A>C | CA419087165 | AGL | c.3301A>C (p.Arg1101=) n.3512A>C c.3253A>C (p.Arg1085=) c.3250A>C (p.Arg1084=) c.1561A>C (p.Arg521=) | |
| 1 | g.99896327A>G | CA341328555 | AGL | c.3301A>G (p.Arg1101Gly) n.3512A>G c.3253A>G (p.Arg1085Gly) c.3250A>G (p.Arg1084Gly) c.1561A>G (p.Arg521Gly) | gnomAD v4 |
| 1 | g.99896327A>T | CA341328556 | AGL | c.3301A>T (p.Arg1101Trp) n.3512A>T c.3253A>T (p.Arg1085Trp) c.3250A>T (p.Arg1084Trp) c.1561A>T (p.Arg521Trp) | |
| 1 | g.99896328G>A | CA341328557 | AGL | c.3302G>A (p.Arg1101Lys) n.3513G>A c.3254G>A (p.Arg1085Lys) c.3251G>A (p.Arg1084Lys) c.1562G>A (p.Arg521Lys) | ClinVar |
| 1 | g.99896328G>C | CA341328558 | AGL | c.3302G>C (p.Arg1101Thr) n.3513G>C c.3254G>C (p.Arg1085Thr) c.3251G>C (p.Arg1084Thr) c.1562G>C (p.Arg521Thr) | |
| 1 | g.99896328G>T | CA341328561 | AGL | c.3302G>T (p.Arg1101Met) n.3513G>T c.3254G>T (p.Arg1085Met) c.3251G>T (p.Arg1084Met) c.1562G>T (p.Arg521Met) | |
| 1 | g.99896329G>A | CA419087174 | AGL | c.3303G>A (p.Arg1101=) n.3514G>A c.3255G>A (p.Arg1085=) c.3252G>A (p.Arg1084=) c.1563G>A (p.Arg521=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99896329G>C | CA341328564 | AGL | c.3303G>C (p.Arg1101Ser) n.3514G>C c.3255G>C (p.Arg1085Ser) c.3252G>C (p.Arg1084Ser) c.1563G>C (p.Arg521Ser) | |
| 1 | g.99896329G= | CA1183935274 | AGL | c.3303G= (p.Arg1101=) n.3514G= c.3255G= (p.Arg1085=) c.3252G= (p.Arg1084=) c.1563G= (p.Arg521=) | |
| 1 | g.99896329G>T | CA341328565 | AGL | c.3303G>T (p.Arg1101Ser) n.3514G>T c.3255G>T (p.Arg1085Ser) c.3252G>T (p.Arg1084Ser) c.1563G>T (p.Arg521Ser) | |
| 1 | g.99896330G>A | CA341328568 | AGL | c.3304G>A (p.Asp1102Asn) n.3515G>A c.3256G>A (p.Asp1086Asn) c.3253G>A (p.Asp1085Asn) c.1564G>A (p.Asp522Asn) | |
| 1 | g.99896330G>C | CA341328571 | AGL | c.3304G>C (p.Asp1102His) n.3515G>C c.3256G>C (p.Asp1086His) c.3253G>C (p.Asp1085His) c.1564G>C (p.Asp522His) | |
| 1 | g.99896330G>T | CA341328573 | AGL | c.3304G>T (p.Asp1102Tyr) n.3515G>T c.3256G>T (p.Asp1086Tyr) c.3253G>T (p.Asp1085Tyr) c.1564G>T (p.Asp522Tyr) | gnomAD v4 |
| 1 | g.99896331A= | CA1183935275 | AGL | c.3305A= (p.Asp1102=) n.3516A= c.3257A= (p.Asp1086=) c.3254A= (p.Asp1085=) c.1565A= (p.Asp522=) | |
| 1 | g.99896331A>C | CA341328584 | AGL | c.3305A>C (p.Asp1102Ala) n.3516A>C c.3257A>C (p.Asp1086Ala) c.3254A>C (p.Asp1085Ala) c.1565A>C (p.Asp522Ala) | |
| 1 | g.99896331A>G | CA341328582 | AGL | c.3305A>G (p.Asp1102Gly) n.3516A>G c.3257A>G (p.Asp1086Gly) c.3254A>G (p.Asp1085Gly) c.1565A>G (p.Asp522Gly) | dbSNP |
| 1 | g.99896331A>T | CA341328579 | AGL | c.3305A>T (p.Asp1102Val) n.3516A>T c.3257A>T (p.Asp1086Val) c.3254A>T (p.Asp1085Val) c.1565A>T (p.Asp522Val) | |
| 1 | g.99896332T>A | CA341328597 | AGL | c.3306T>A (p.Asp1102Glu) n.3517T>A c.3258T>A (p.Asp1086Glu) c.3255T>A (p.Asp1085Glu) c.1566T>A (p.Asp522Glu) | |
| 1 | g.99896332T>C | CA419087188 | AGL | c.3306T>C (p.Asp1102=) n.3517T>C c.3258T>C (p.Asp1086=) c.3255T>C (p.Asp1085=) c.1566T>C (p.Asp522=) | |
| 1 | g.99896332T>G | CA341328604 | AGL | c.3306T>G (p.Asp1102Glu) n.3517T>G c.3258T>G (p.Asp1086Glu) c.3255T>G (p.Asp1085Glu) c.1566T>G (p.Asp522Glu) | |
| 1 | g.99896333A>C | CA341328607 | AGL | c.3307A>C (p.Thr1103Pro) n.3518A>C c.3259A>C (p.Thr1087Pro) c.3256A>C (p.Thr1086Pro) c.1567A>C (p.Thr523Pro) | |
| 1 | g.99896333A>G | CA341328609 | AGL | c.3307A>G (p.Thr1103Ala) n.3518A>G c.3259A>G (p.Thr1087Ala) c.3256A>G (p.Thr1086Ala) c.1567A>G (p.Thr523Ala) | gnomAD v4 |
| 1 | g.99896333A>T | CA341328608 | AGL | c.3307A>T (p.Thr1103Ser) n.3518A>T c.3259A>T (p.Thr1087Ser) c.3256A>T (p.Thr1086Ser) c.1567A>T (p.Thr523Ser) | |
| 1 | g.99896334C>A | CA341328610 | AGL | c.3308C>A (p.Thr1103Asn) n.3519C>A c.3260C>A (p.Thr1087Asn) c.3257C>A (p.Thr1086Asn) c.1568C>A (p.Thr523Asn) | |
| 1 | g.99896334C= | CA1183935276 | AGL | c.3308C= (p.Thr1103=) n.3519C= c.3260C= (p.Thr1087=) c.3257C= (p.Thr1086=) c.1568C= (p.Thr523=) | |
| 1 | g.99896334C>G | CA967045 | AGL | c.3308C>G (p.Thr1103Ser) n.3519C>G c.3260C>G (p.Thr1087Ser) c.3257C>G (p.Thr1086Ser) c.1568C>G (p.Thr523Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99896334C>T | CA341328611 | AGL | c.3308C>T (p.Thr1103Ile) n.3519C>T c.3260C>T (p.Thr1087Ile) c.3257C>T (p.Thr1086Ile) c.1568C>T (p.Thr523Ile) | ClinVar COSMIC COSMIC |
| 1 | g.99896335T>A | CA419087200 | AGL | c.3309T>A (p.Thr1103=) n.3520T>A c.3261T>A (p.Thr1087=) c.3258T>A (p.Thr1086=) c.1569T>A (p.Thr523=) | |
| 1 | g.99896335T>C | CA419087202 | AGL | c.3309T>C (p.Thr1103=) n.3520T>C c.3261T>C (p.Thr1087=) c.3258T>C (p.Thr1086=) c.1569T>C (p.Thr523=) | ClinVar |
| 1 | g.99896335T>G | CA419087203 | AGL | c.3309T>G (p.Thr1103=) n.3520T>G c.3261T>G (p.Thr1087=) c.3258T>G (p.Thr1086=) c.1569T>G (p.Thr523=) | |
| 1 | g.99896336T>A | CA341328612 | AGL | c.3310T>A (p.Phe1104Ile) n.3521T>A c.3262T>A (p.Phe1088Ile) c.3259T>A (p.Phe1087Ile) c.1570T>A (p.Phe524Ile) | |
| 1 | g.99896336T>C | CA341328617 | AGL | c.3310T>C (p.Phe1104Leu) n.3521T>C c.3262T>C (p.Phe1088Leu) c.3259T>C (p.Phe1087Leu) c.1570T>C (p.Phe524Leu) | |
| 1 | g.99896336T>G | CA341328614 | AGL | c.3310T>G (p.Phe1104Val) n.3521T>G c.3262T>G (p.Phe1088Val) c.3259T>G (p.Phe1087Val) c.1570T>G (p.Phe524Val) | ClinVar dbSNP |
| 1 | g.99896336T= | CA1183935277 | AGL | c.3310T= (p.Phe1104=) n.3521T= c.3262T= (p.Phe1088=) c.3259T= (p.Phe1087=) c.1570T= (p.Phe524=) | |
| 1 | g.99896337T>A | CA341328619 | AGL | c.3311T>A (p.Phe1104Tyr) n.3522T>A c.3263T>A (p.Phe1088Tyr) c.3260T>A (p.Phe1087Tyr) c.1571T>A (p.Phe524Tyr) | |
| 1 | g.99896337T>C | CA341328625 | AGL | c.3311T>C (p.Phe1104Ser) n.3522T>C c.3263T>C (p.Phe1088Ser) c.3260T>C (p.Phe1087Ser) c.1571T>C (p.Phe524Ser) |