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 |
|---|---|---|---|---|---|
| X | g.155022410_155022723del | CA1139532180 | F8 | c.-170_143+1del c.38+4058_38+4371del (n.38+4058_38+4371del) c.39-226_125+1del | |
| X | g.155022467_155022474del | CA2695238536 | F8 | c.81_88del (p.Ala28ThrfsTer9) c.38+4308_38+4315del (n.38+4308_38+4315del) c.63_70del (p.Ala22ThrfsTer9) | |
| X | g.155022469_155022473del | CA915952172 | F8 | c.83_87del (p.Ala28GlyfsTer10) c.38+4310_38+4314del (n.38+4310_38+4314del) c.65_69del (p.Ala22GlyfsTer10) | ClinVar dbSNP |
| X | g.155022467_155022481del | CA2695238537 | F8 | c.72_86del (p.Tyr24Ter) c.38+4299_38+4313del (n.38+4299_38+4313del) c.54_68del (p.Tyr18Ter) | |
| X | g.155022470_155022471delinsTT | CA2695238538 | F8 | c.82_83delinsAA (p.Ala28Lys) c.38+4309_38+4310delinsAA (n.38+4309_38+4310delinsAA) c.64_65delinsAA (p.Ala22Lys) | |
| X | g.155022471C>A | CA414920564 | F8 | c.82G>T (p.Ala28Ser) c.38+4309G>T (n.38+4309G>T) c.64G>T (p.Ala22Ser) | |
| X | g.155022471C= | CA2466865428 | F8 | c.82G= (p.Ala28=) c.38+4309G= (n.38+4309G=) c.64G= (p.Ala22=) | |
| X | g.155022471C>G | CA414920565 | F8 | c.82G>C (p.Ala28Pro) c.38+4309G>C (n.38+4309G>C) c.64G>C (p.Ala22Pro) | |
| X | g.155022471C>T | CA414920566 | F8 | c.82G>A (p.Ala28Thr) c.38+4309G>A (n.38+4309G>A) c.64G>A (p.Ala22Thr) | dbSNP |
| X | g.155022472A= | CA2466865429 | F8 | c.81T= (p.Gly27=) c.38+4308T= (n.38+4308T=) c.63T= (p.Gly21=) | |
| X | g.155022472A>C | CA10568647 | F8 | c.81T>G (p.Gly27=) c.38+4308T>G (n.38+4308T>G) c.63T>G (p.Gly21=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.155022472A>G | CA519388664 | F8 | c.81T>C (p.Gly27=) c.38+4308T>C (n.38+4308T>C) c.63T>C (p.Gly21=) | |
| X | g.155022472A>T | CA519388665 | F8 | c.81T>A (p.Gly27=) c.38+4308T>A (n.38+4308T>A) c.63T>A (p.Gly21=) | |
| X | g.155022473C>A | CA414920567 | F8 | c.80G>T (p.Gly27Val) c.38+4307G>T (n.38+4307G>T) c.62G>T (p.Gly21Val) | |
| X | g.155022473C= | CA2466865430 | F8 | c.80G= (p.Gly27=) c.38+4307G= (n.38+4307G=) c.62G= (p.Gly21=) | |
| X | g.155022473C>G | CA414920568 | F8 | c.80G>C (p.Gly27Ala) c.38+4307G>C (n.38+4307G>C) c.62G>C (p.Gly21Ala) | |
| X | g.155022473C>T | CA414920569 | F8 | c.80G>A (p.Gly27Asp) c.38+4307G>A (n.38+4307G>A) c.62G>A (p.Gly21Asp) | dbSNP |
| X | g.155022474C>A | CA414920570 | F8 | c.79G>T (p.Gly27Cys) c.38+4306G>T (n.38+4306G>T) c.61G>T (p.Gly21Cys) | |
| X | g.155022474C>G | CA414920571 | F8 | c.79G>C (p.Gly27Arg) c.38+4306G>C (n.38+4306G>C) c.61G>C (p.Gly21Arg) | |
| X | g.155022474C>T | CA414920572 | F8 | c.79G>A (p.Gly27Ser) c.38+4306G>A (n.38+4306G>A) c.61G>A (p.Gly21Ser) | |
| X | g.155022475C>A | CA519388676 | F8 | c.78G>T (p.Leu26=) c.38+4305G>T (n.38+4305G>T) c.60G>T (p.Leu20=) | |
| X | g.155022475C>G | CA519388679 | F8 | c.78G>C (p.Leu26=) c.38+4305G>C (n.38+4305G>C) c.60G>C (p.Leu20=) | |
| X | g.155022475C>T | CA519388683 | F8 | c.78G>A (p.Leu26=) c.38+4305G>A (n.38+4305G>A) c.60G>A (p.Leu20=) | |
| X | g.155022476A= | CA2466865431 | F8 | c.77T= (p.Leu26=) c.38+4304T= (n.38+4304T=) c.59T= (p.Leu20=) | |
| X | g.155022476A>C | CA255046 | F8 | c.77T>G (p.Leu26Arg) c.38+4304T>G (n.38+4304T>G) c.59T>G (p.Leu20Arg) | ClinVar dbSNP |
| X | g.155022476A>G | CA414920574 | F8 | c.77T>C (p.Leu26Pro) c.38+4304T>C (n.38+4304T>C) c.59T>C (p.Leu20Pro) | |
| X | g.155022476A>T | CA414920573 | F8 | c.77T>A (p.Leu26Gln) c.38+4304T>A (n.38+4304T>A) c.59T>A (p.Leu20Gln) | |
| X | g.155022477G>A | CA519388692 | F8 | c.76C>T (p.Leu26=) c.38+4303C>T (n.38+4303C>T) c.58C>T (p.Leu20=) | |
| X | g.155022477G>C | CA414920575 | F8 | c.76C>G (p.Leu26Val) c.38+4303C>G (n.38+4303C>G) c.58C>G (p.Leu20Val) | |
| X | g.155022477G>T | CA414920576 | F8 | c.76C>A (p.Leu26Met) c.38+4303C>A (n.38+4303C>A) c.58C>A (p.Leu20Met) | |
| X | g.155022478G>A | CA519388700 | F8 | c.75C>T (p.Tyr25=) c.38+4302C>T (n.38+4302C>T) c.57C>T (p.Tyr19=) | |
| X | g.155022478G>C | CA414920577 | F8 | c.75C>G (p.Tyr25Ter) c.38+4302C>G (n.38+4302C>G) c.57C>G (p.Tyr19Ter) | dbSNP |
| X | g.155022478G= | CA2466865432 | F8 | c.75C= (p.Tyr25=) c.38+4302C= (n.38+4302C=) c.57C= (p.Tyr19=) | |
| X | g.155022478G>T | CA414920578 | F8 | c.75C>A (p.Tyr25Ter) c.38+4302C>A (n.38+4302C>A) c.57C>A (p.Tyr19Ter) | |
| X | g.155022478_155022480delinsCTG | CA2695238540 | F8 | c.73_75delinsCAG (p.Tyr25Gln) c.38+4300_38+4302delinsCAG (n.38+4300_38+4302delinsCAG) c.55_57delinsCAG (p.Tyr19Gln) | |
| X | g.155022481_155022483del | CA2695238539 | F8 | c.73_75del (p.Tyr25del) c.38+4300_38+4302del (n.38+4300_38+4302del) c.55_57del (p.Tyr19del) | |
| X | g.155022479T>A | CA414920579 | F8 | c.74A>T (p.Tyr25Phe) c.38+4301A>T (n.38+4301A>T) c.56A>T (p.Tyr19Phe) | |
| X | g.155022479T>C | CA414920580 | F8 | c.74A>G (p.Tyr25Cys) c.38+4301A>G (n.38+4301A>G) c.56A>G (p.Tyr19Cys) | ClinVar dbSNP |
| X | g.155022479T>G | CA414920581 | F8 | c.74A>C (p.Tyr25Ser) c.38+4301A>C (n.38+4301A>C) c.56A>C (p.Tyr19Ser) | |
| X | g.155022480A>C | CA414920582 | F8 | c.73T>G (p.Tyr25Asp) c.38+4300T>G (n.38+4300T>G) c.55T>G (p.Tyr19Asp) | |
| X | g.155022480A>G | CA414920583 | F8 | c.73T>C (p.Tyr25His) c.38+4300T>C (n.38+4300T>C) c.55T>C (p.Tyr19His) | gnomAD v4 |
| X | g.155022480A>T | CA414920584 | F8 | c.73T>A (p.Tyr25Asn) c.38+4300T>A (n.38+4300T>A) c.55T>A (p.Tyr19Asn) | |
| X | g.155022480dup | CA2695238541 | F8 | c.73dup (p.Tyr25LeufsTer15) c.38+4300dup (n.38+4300dup) c.55dup (p.Tyr19LeufsTer15) | |
| X | g.155022481G>A | CA519388722 | F8 | c.72C>T (p.Tyr24=) c.38+4299C>T (n.38+4299C>T) c.54C>T (p.Tyr18=) | |
| X | g.155022481G>C | CA414920585 | F8 | c.72C>G (p.Tyr24Ter) c.38+4299C>G (n.38+4299C>G) c.54C>G (p.Tyr18Ter) | dbSNP |
| X | g.155022481G= | CA2466865433 | F8 | c.72C= (p.Tyr24=) c.38+4299C= (n.38+4299C=) c.54C= (p.Tyr18=) | |
| X | g.155022481G>T | CA414920586 | F8 | c.72C>A (p.Tyr24Ter) c.38+4299C>A (n.38+4299C>A) c.54C>A (p.Tyr18Ter) | |
| X | g.155022482T>A | CA414920589 | F8 | c.71A>T (p.Tyr24Phe) c.38+4298A>T (n.38+4298A>T) c.53A>T (p.Tyr18Phe) | |
| X | g.155022482T>C | CA414920588 | F8 | c.71A>G (p.Tyr24Cys) c.38+4298A>G (n.38+4298A>G) c.53A>G (p.Tyr18Cys) | gnomAD v4 |
| X | g.155022482T>G | CA414920587 | F8 | c.71A>C (p.Tyr24Ser) c.38+4298A>C (n.38+4298A>C) c.53A>C (p.Tyr18Ser) |