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 |
|---|---|---|---|---|---|
| 2 | g.21006713_21006716delinsTGTG | CA2493474930 | APOB | c.10152_10155delinsCACA (p.Thr3384=) c.5869+4017_5869+4020delinsCACA (n.5869+4017_5869+4020delinsCACA) | |
| 2 | g.21006714G>A | CA345987299 | APOB | c.10154C>T (p.Thr3385Ile) c.5869+4019C>T (n.5869+4019C>T) | gnomAD v4 |
| 2 | g.21006714G>C | CA345987296 | APOB | c.10154C>G (p.Thr3385Arg) c.5869+4019C>G (n.5869+4019C>G) | COSMIC |
| 2 | g.21006714G= | CA2493474931 | APOB | c.10154C= (p.Thr3385=) c.5869+4019C= (n.5869+4019C=) | |
| 2 | g.21006714G>T | CA345987297 | APOB | c.10154C>A (p.Thr3385Lys) c.5869+4019C>A (n.5869+4019C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006717_21006719del | CA1028204386 | APOB | c.10152_10154del (p.Thr3385del) c.5869+4017_5869+4019del (n.5869+4017_5869+4019del) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006715T>A | CA345987302 | APOB | c.10153A>T (p.Thr3385Ser) c.5869+4018A>T (n.5869+4018A>T) | |
| 2 | g.21006715T>C | CA43496397 | APOB | c.10153A>G (p.Thr3385Ala) c.5869+4018A>G (n.5869+4018A>G) | dbSNP |
| 2 | g.21006715T>G | CA345987304 | APOB | c.10153A>C (p.Thr3385Pro) c.5869+4018A>C (n.5869+4018A>C) | |
| 2 | g.21006715T= | CA2493474932 | APOB | c.10153A= (p.Thr3385=) c.5869+4018A= (n.5869+4018A=) | |
| 2 | g.21006716G>A | CA042573 | APOB | c.10152C>T (p.Thr3384=) c.5869+4017C>T (n.5869+4017C>T) | ClinVar dbSNP ExAC |
| 2 | g.21006716G>C | CA425343670 | APOB | c.10152C>G (p.Thr3384=) c.5869+4017C>G (n.5869+4017C>G) | |
| 2 | g.21006716G= | CA2493474933 | APOB | c.10152C= (p.Thr3384=) c.5869+4017C= (n.5869+4017C=) | |
| 2 | g.21006716G>T | CA425343668 | APOB | c.10152C>A (p.Thr3384=) c.5869+4017C>A (n.5869+4017C>A) | |
| 2 | g.21006717G>A | CA345987308 | APOB | c.10151C>T (p.Thr3384Ile) c.5869+4016C>T (n.5869+4016C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.21006717G>C | CA345987310 | APOB | c.10151C>G (p.Thr3384Ser) c.5869+4016C>G (n.5869+4016C>G) | |
| 2 | g.21006717G= | CA2493474934 | APOB | c.10151C= (p.Thr3384=) c.5869+4016C= (n.5869+4016C=) | |
| 2 | g.21006717G>T | CA345987312 | APOB | c.10151C>A (p.Thr3384Asn) c.5869+4016C>A (n.5869+4016C>A) | |
| 2 | g.21006718T>A | CA345987314 | APOB | c.10150A>T (p.Thr3384Ser) c.5869+4015A>T (n.5869+4015A>T) | |
| 2 | g.21006718T>C | CA345987316 | APOB | c.10150A>G (p.Thr3384Ala) c.5869+4015A>G (n.5869+4015A>G) | |
| 2 | g.21006718T>G | CA345987318 | APOB | c.10150A>C (p.Thr3384Pro) c.5869+4015A>C (n.5869+4015A>C) | |
| 2 | g.21006719G>A | CA425343673 | APOB | c.10149C>T (p.Gly3383=) c.5869+4014C>T (n.5869+4014C>T) | |
| 2 | g.21006719G>C | CA425343675 | APOB | c.10149C>G (p.Gly3383=) c.5869+4014C>G (n.5869+4014C>G) | |
| 2 | g.21006719G>T | CA425343677 | APOB | c.10149C>A (p.Gly3383=) c.5869+4014C>A (n.5869+4014C>A) | |
| 2 | g.21006720C>A | CA345987324 | APOB | c.10148G>T (p.Gly3383Val) c.5869+4013G>T (n.5869+4013G>T) | |
| 2 | g.21006720C>G | CA345987326 | APOB | c.10148G>C (p.Gly3383Ala) c.5869+4013G>C (n.5869+4013G>C) | |
| 2 | g.21006720C>T | CA345987327 | APOB | c.10148G>A (p.Gly3383Asp) c.5869+4013G>A (n.5869+4013G>A) | |
| 2 | g.21006721C>A | CA345987332 | APOB | c.10147G>T (p.Gly3383Cys) c.5869+4012G>T (n.5869+4012G>T) | |
| 2 | g.21006721C= | CA2493474935 | APOB | c.10147G= (p.Gly3383=) c.5869+4012G= (n.5869+4012G=) | |
| 2 | g.21006721C>G | CA345987334 | APOB | c.10147G>C (p.Gly3383Arg) c.5869+4012G>C (n.5869+4012G>C) | |
| 2 | g.21006721C>T | CA345987330 | APOB | c.10147G>A (p.Gly3383Ser) c.5869+4012G>A (n.5869+4012G>A) | ClinVar dbSNP |
| 2 | g.21006722C>A | CA345987337 | APOB | c.10146G>T (p.Glu3382Asp) c.5869+4011G>T (n.5869+4011G>T) | |
| 2 | g.21006722C= | CA2493474936 | APOB | c.10146G= (p.Glu3382=) c.5869+4011G= (n.5869+4011G=) | |
| 2 | g.21006722C>G | CA345987338 | APOB | c.10146G>C (p.Glu3382Asp) c.5869+4011G>C (n.5869+4011G>C) | ClinVar dbSNP |
| 2 | g.21006722C>T | CA425343682 | APOB | c.10146G>A (p.Glu3382=) c.5869+4011G>A (n.5869+4011G>A) | COSMIC |
| 2 | g.21006723T>A | CA345987393 | APOB | c.10145A>T (p.Glu3382Val) c.5869+4010A>T (n.5869+4010A>T) | |
| 2 | g.21006723T>C | CA345987394 | APOB | c.10145A>G (p.Glu3382Gly) c.5869+4010A>G (n.5869+4010A>G) | |
| 2 | g.21006723T>G | CA345987395 | APOB | c.10145A>C (p.Glu3382Ala) c.5869+4010A>C (n.5869+4010A>C) | |
| 2 | g.21006724C>A | CA345987396 | APOB | c.10144G>T (p.Glu3382Ter) c.5869+4009G>T (n.5869+4009G>T) | |
| 2 | g.21006724C= | CA2493474937 | APOB | c.10144G= (p.Glu3382=) c.5869+4009G= (n.5869+4009G=) | |
| 2 | g.21006724C>G | CA042559 | APOB | c.10144G>C (p.Glu3382Gln) c.5869+4009G>C (n.5869+4009G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.21006724C>T | CA345987397 | APOB | c.10144G>A (p.Glu3382Lys) c.5869+4009G>A (n.5869+4009G>A) | dbSNP |
| 2 | g.21006725T>A | CA345987398 | APOB | c.10143A>T (p.Leu3381Phe) c.5869+4008A>T (n.5869+4008A>T) | |
| 2 | g.21006725T>C | CA425343654 | APOB | c.10143A>G (p.Leu3381=) c.5869+4008A>G (n.5869+4008A>G) | |
| 2 | g.21006725T>G | CA345987399 | APOB | c.10143A>C (p.Leu3381Phe) c.5869+4008A>C (n.5869+4008A>C) | |
| 2 | g.21006726A>C | CA345987400 | APOB | c.10142T>G (p.Leu3381Ter) c.5869+4007T>G (n.5869+4007T>G) | |
| 2 | g.21006726A>G | CA345987401 | APOB | c.10142T>C (p.Leu3381Ser) c.5869+4007T>C (n.5869+4007T>C) | COSMIC |
| 2 | g.21006726A>T | CA345987402 | APOB | c.10142T>A (p.Leu3381Ter) c.5869+4007T>A (n.5869+4007T>A) | |
| 2 | g.21006727A>C | CA345987403 | APOB | c.10141T>G (p.Leu3381Val) c.5869+4006T>G (n.5869+4006T>G) | |
| 2 | g.21006727A>G | CA425343656 | APOB | c.10141T>C (p.Leu3381=) c.5869+4006T>C (n.5869+4006T>C) |