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 |
|---|---|---|---|---|---|
| 19 | g.7267736G>A | CA9136146 | INSR | c.261C>T (p.Tyr87=) n.236C>T c.339C>T (p.Tyr113=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7267736G>C | CA403160209 | INSR | c.261C>G (p.Tyr87Ter) n.236C>G c.339C>G (p.Tyr113Ter) | |
| 19 | g.7267736G= | CA2320836527 | INSR | c.261C= (p.Tyr87=) n.236C= c.339C= (p.Tyr113=) | |
| 19 | g.7267736G>T | CA403160210 | INSR | c.261C>A (p.Tyr87Ter) n.236C>A c.339C>A (p.Tyr113Ter) | gnomAD v4 |
| 19 | g.7267736_7267737insC | CA2695228067 | INSR | c.260_261insG (p.Tyr87Ter) n.235_236insG c.338_339insG (p.Tyr113Ter) | |
| 19 | g.7267737T>A | CA403160212 | INSR | c.260A>T (p.Tyr87Phe) n.235A>T c.338A>T (p.Tyr113Phe) | |
| 19 | g.7267737T>C | CA403160214 | INSR | c.260A>G (p.Tyr87Cys) n.235A>G c.338A>G (p.Tyr113Cys) | |
| 19 | g.7267737T>G | CA403160216 | INSR | c.260A>C (p.Tyr87Ser) n.235A>C c.338A>C (p.Tyr113Ser) | |
| 19 | g.7267737_7267738insC | CA2587926495 | INSR | c.259_260insG (p.Tyr87Ter) n.234_235insG c.337_338insG (p.Tyr113Ter) | gnomAD v4 |
| 19 | g.7267738A>C | CA403160217 | INSR | c.259T>G (p.Tyr87Asp) n.234T>G c.337T>G (p.Tyr113Asp) | |
| 19 | g.7267738A>G | CA403160219 | INSR | c.259T>C (p.Tyr87His) n.234T>C c.337T>C (p.Tyr113His) | |
| 19 | g.7267738A>T | CA403160221 | INSR | c.259T>A (p.Tyr87Asn) n.234T>A c.337T>A (p.Tyr113Asn) | |
| 19 | g.7267739A>C | CA403160222 | INSR | c.258T>G (p.Asp86Glu) n.233T>G c.336T>G (p.Asp112Glu) | |
| 19 | g.7267739A>G | CA505482038 | INSR | c.258T>C (p.Asp86=) n.233T>C c.336T>C (p.Asp112=) | |
| 19 | g.7267739A>T | CA403160224 | INSR | c.258T>A (p.Asp86Glu) n.233T>A c.336T>A (p.Asp112Glu) | |
| 19 | g.7267740T>A | CA403160226 | INSR | c.257A>T (p.Asp86Val) n.232A>T c.335A>T (p.Asp112Val) | |
| 19 | g.7267740T>C | CA403160227 | INSR | c.257A>G (p.Asp86Gly) n.232A>G c.335A>G (p.Asp112Gly) | |
| 19 | g.7267740T>G | CA403160229 | INSR | c.257A>C (p.Asp86Ala) n.232A>C c.335A>C (p.Asp112Ala) | |
| 19 | g.7267741C>A | CA403160234 | INSR | c.256G>T (p.Asp86Tyr) n.231G>T c.334G>T (p.Asp112Tyr) | |
| 19 | g.7267741C>G | CA403160230 | INSR | c.256G>C (p.Asp86His) n.231G>C c.334G>C (p.Asp112His) | |
| 19 | g.7267741C>T | CA403160232 | INSR | c.256G>A (p.Asp86Asn) n.231G>A c.334G>A (p.Asp112Asn) | |
| 19 | g.7267742A>C | CA505482039 | INSR | c.255T>G (p.Thr85=) n.230T>G c.333T>G (p.Thr111=) | |
| 19 | g.7267742A>G | CA505482040 | INSR | c.255T>C (p.Thr85=) n.230T>C c.333T>C (p.Thr111=) | gnomAD v4 |
| 19 | g.7267742A>T | CA505482041 | INSR | c.255T>A (p.Thr85=) n.230T>A c.333T>A (p.Thr111=) | |
| 19 | g.7267743G>A | CA403160236 | INSR | c.254C>T (p.Thr85Ile) n.229C>T c.332C>T (p.Thr111Ile) | |
| 19 | g.7267743G>C | CA403160237 | INSR | c.254C>G (p.Thr85Ser) n.229C>G c.332C>G (p.Thr111Ser) | |
| 19 | g.7267743G>T | CA403160239 | INSR | c.254C>A (p.Thr85Asn) n.229C>A c.332C>A (p.Thr111Asn) | |
| 19 | g.7267744T>A | CA403160241 | INSR | c.253A>T (p.Thr85Ser) n.228A>T c.331A>T (p.Thr111Ser) | |
| 19 | g.7267744T>C | CA403160243 | INSR | c.253A>G (p.Thr85Ala) n.228A>G c.331A>G (p.Thr111Ala) | |
| 19 | g.7267744T>G | CA403160244 | INSR | c.253A>C (p.Thr85Pro) n.228A>C c.331A>C (p.Thr111Pro) | |
| 19 | g.7267745G>A | CA505482042 | INSR | c.252C>T (p.Ile84=) n.227C>T c.330C>T (p.Ile110=) | |
| 19 | g.7267745G>C | CA403160245 | INSR | c.252C>G (p.Ile84Met) n.227C>G c.330C>G (p.Ile110Met) | |
| 19 | g.7267745G>T | CA505482043 | INSR | c.252C>A (p.Ile84=) n.227C>A c.330C>A (p.Ile110=) | gnomAD v4 |
| 19 | g.7267746A>C | CA403160247 | INSR | c.251T>G (p.Ile84Ser) n.226T>G c.329T>G (p.Ile110Ser) | |
| 19 | g.7267746A>G | CA403160249 | INSR | c.251T>C (p.Ile84Thr) n.226T>C c.329T>C (p.Ile110Thr) | |
| 19 | g.7267746A>T | CA403160250 | INSR | c.251T>A (p.Ile84Asn) n.226T>A c.329T>A (p.Ile110Asn) | |
| 19 | g.7267747T>A | CA403160252 | INSR | c.250A>T (p.Ile84Phe) n.225A>T c.328A>T (p.Ile110Phe) | |
| 19 | g.7267747T>C | CA403160253 | INSR | c.250A>G (p.Ile84Val) n.225A>G c.328A>G (p.Ile110Val) | ClinVar dbSNP |
| 19 | g.7267747T>G | CA9136147 | INSR | c.250A>C (p.Ile84Leu) n.225A>C c.328A>C (p.Ile110Leu) | dbSNP ExAC gnomAD v2 |
| 19 | g.7267747T= | CA2320836528 | INSR | c.250A= (p.Ile84=) n.225A= c.328A= (p.Ile110=) | |
| 19 | g.7267748C>A | CA403160256 | INSR | c.249G>T (p.Met83Ile) n.224G>T c.327G>T (p.Met109Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.7267748C= | CA2320836529 | INSR | c.249G= (p.Met83=) n.224G= c.327G= (p.Met109=) | |
| 19 | g.7267748C>G | CA403160258 | INSR | c.249G>C (p.Met83Ile) n.224G>C c.327G>C (p.Met109Ile) | |
| 19 | g.7267748C>T | CA403160255 | INSR | c.249G>A (p.Met83Ile) n.224G>A c.327G>A (p.Met109Ile) | gnomAD v4 |
| 19 | g.7267749A= | CA2320836530 | INSR | c.248T= (p.Met83=) n.223T= c.326T= (p.Met109=) | |
| 19 | g.7267749A>C | CA403160259 | INSR | c.248T>G (p.Met83Arg) n.223T>G c.326T>G (p.Met109Arg) | |
| 19 | g.7267749A>G | CA403160261 | INSR | c.248T>C (p.Met83Thr) n.223T>C c.326T>C (p.Met109Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.7267749A>T | CA403160260 | INSR | c.248T>A (p.Met83Lys) n.223T>A c.326T>A (p.Met109Lys) | |
| 19 | g.7267750T>A | CA403160263 | INSR | c.247A>T (p.Met83Leu) n.222A>T c.325A>T (p.Met109Leu) | gnomAD v4 |
| 19 | g.7267750T>C | CA403160264 | INSR | c.247A>G (p.Met83Val) n.222A>G c.325A>G (p.Met109Val) |