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 |
|---|---|---|---|---|---|
| 3 | g.48565457_48565479del | CA2586972162 | COL7A1 | c.8461_8483del (p.Ala2821ProfsTer20) n.5100_5122del c.8488_8510del (p.Ala2830ProfsTer20) c.8428_8450del (p.Ala2810ProfsTer20) n.8524_8546del c.8401_8423del (p.Ala2801ProfsTer20) n.8497_8519del | |
| 3 | g.48565458_48565495del | CA2665615608 | COL7A1 | c.8443_8480del (p.Pro2815AlafsTer21) n.5082_5119del c.8470_8507del (p.Pro2824AlafsTer21) c.8410_8447del (p.Pro2804AlafsTer21) n.8506_8543del c.8383_8420del (p.Pro2795AlafsTer21) n.8479_8516del | gnomAD v4 |
| 3 | g.48565458G>A | CA128523 | COL7A1 | c.8479C>T (p.Gln2827Ter) n.5118C>T c.8506C>T (p.Gln2836Ter) c.8446C>T (p.Gln2816Ter) n.8542C>T c.8419C>T (p.Gln2807Ter) n.8515C>T | ClinVar dbSNP gnomAD v2 |
| 3 | g.48565458G>C | CA352634974 | COL7A1 | c.8479C>G (p.Gln2827Glu) n.5118C>G c.8506C>G (p.Gln2836Glu) c.8446C>G (p.Gln2816Glu) n.8542C>G c.8419C>G (p.Gln2807Glu) n.8515C>G | |
| 3 | g.48565458G= | CA1363078993 | COL7A1 | c.8479C= (p.Gln2827=) n.5118C= c.8506C= (p.Gln2836=) c.8446C= (p.Gln2816=) n.8542C= c.8419C= (p.Gln2807=) n.8515C= | |
| 3 | g.48565458G>T | CA352634975 | COL7A1 | c.8479C>A (p.Gln2827Lys) n.5118C>A c.8506C>A (p.Gln2836Lys) c.8446C>A (p.Gln2816Lys) n.8542C>A c.8419C>A (p.Gln2807Lys) n.8515C>A | |
| 3 | g.48565459G>A | CA433531981 | COL7A1 | c.8478C>T (p.Ser2826=) n.5117C>T c.8505C>T (p.Ser2835=) c.8445C>T (p.Ser2815=) n.8541C>T c.8418C>T (p.Ser2806=) n.8514C>T | |
| 3 | g.48565459G>C | CA433531983 | COL7A1 | c.8478C>G (p.Ser2826=) n.5117C>G c.8505C>G (p.Ser2835=) c.8445C>G (p.Ser2815=) n.8541C>G c.8418C>G (p.Ser2806=) n.8514C>G | |
| 3 | g.48565459G>T | CA433531984 | COL7A1 | c.8478C>A (p.Ser2826=) n.5117C>A c.8505C>A (p.Ser2835=) c.8445C>A (p.Ser2815=) n.8541C>A c.8418C>A (p.Ser2806=) n.8514C>A | |
| 3 | g.48565460_48565462del | CA2665615612 | COL7A1 | c.8476_8478del (p.Ser2826del) n.5115_5117del c.8503_8505del (p.Ser2835del) c.8443_8445del (p.Ser2815del) n.8539_8541del c.8416_8418del (p.Ser2806del) n.8512_8514del | gnomAD v4 |
| 3 | g.48565460G>A | CA352634980 | COL7A1 | c.8477C>T (p.Ser2826Phe) n.5116C>T c.8504C>T (p.Ser2835Phe) c.8444C>T (p.Ser2815Phe) n.8540C>T c.8417C>T (p.Ser2806Phe) n.8513C>T | |
| 3 | g.48565460G>C | CA352634982 | COL7A1 | c.8477C>G (p.Ser2826Cys) n.5116C>G c.8504C>G (p.Ser2835Cys) c.8444C>G (p.Ser2815Cys) n.8540C>G c.8417C>G (p.Ser2806Cys) n.8513C>G | COSMIC |
| 3 | g.48565460G>T | CA352634978 | COL7A1 | c.8477C>A (p.Ser2826Tyr) n.5116C>A c.8504C>A (p.Ser2835Tyr) c.8444C>A (p.Ser2815Tyr) n.8540C>A c.8417C>A (p.Ser2806Tyr) n.8513C>A | |
| 3 | g.48565461A>C | CA352634998 | COL7A1 | c.8476T>G (p.Ser2826Ala) n.5115T>G c.8503T>G (p.Ser2835Ala) c.8443T>G (p.Ser2815Ala) n.8539T>G c.8416T>G (p.Ser2806Ala) n.8512T>G | |
| 3 | g.48565461A>G | CA352634988 | COL7A1 | c.8476T>C (p.Ser2826Pro) n.5115T>C c.8503T>C (p.Ser2835Pro) c.8443T>C (p.Ser2815Pro) n.8539T>C c.8416T>C (p.Ser2806Pro) n.8512T>C | |
| 3 | g.48565461A>T | CA352635001 | COL7A1 | c.8476T>A (p.Ser2826Thr) n.5115T>A c.8503T>A (p.Ser2835Thr) c.8443T>A (p.Ser2815Thr) n.8539T>A c.8416T>A (p.Ser2806Thr) n.8512T>A | |
| 3 | g.48565462G>A | CA73970219 | COL7A1 | c.8475C>T (p.Gly2825=) n.5114C>T c.8502C>T (p.Gly2834=) c.8442C>T (p.Gly2814=) n.8538C>T c.8415C>T (p.Gly2805=) n.8511C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.48565462G>C | CA433531987 | COL7A1 | c.8475C>G (p.Gly2825=) n.5114C>G c.8502C>G (p.Gly2834=) c.8442C>G (p.Gly2814=) n.8538C>G c.8415C>G (p.Gly2805=) n.8511C>G | |
| 3 | g.48565462G= | CA1363078996 | COL7A1 | c.8475C= (p.Gly2825=) n.5114C= c.8502C= (p.Gly2834=) c.8442C= (p.Gly2814=) n.8538C= c.8415C= (p.Gly2805=) n.8511C= | |
| 3 | g.48565462G>T | CA433531988 | COL7A1 | c.8475C>A (p.Gly2825=) n.5114C>A c.8502C>A (p.Gly2834=) c.8442C>A (p.Gly2814=) n.8538C>A c.8415C>A (p.Gly2805=) n.8511C>A | |
| 3 | g.48565463C>A | CA352635010 | COL7A1 | c.8474G>T (p.Gly2825Val) n.5113G>T c.8501G>T (p.Gly2834Val) c.8441G>T (p.Gly2814Val) n.8537G>T c.8414G>T (p.Gly2805Val) n.8510G>T | |
| 3 | g.48565463C= | CA1363079002 | COL7A1 | c.8474G= (p.Gly2825=) n.5113G= c.8501G= (p.Gly2834=) c.8441G= (p.Gly2814=) n.8537G= c.8414G= (p.Gly2805=) n.8510G= | |
| 3 | g.48565463C>G | CA352635014 | COL7A1 | c.8474G>C (p.Gly2825Ala) n.5113G>C c.8501G>C (p.Gly2834Ala) c.8441G>C (p.Gly2814Ala) n.8537G>C c.8414G>C (p.Gly2805Ala) n.8510G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48565463C>T | CA352635019 | COL7A1 | c.8474G>A (p.Gly2825Asp) n.5113G>A c.8501G>A (p.Gly2834Asp) c.8441G>A (p.Gly2814Asp) n.8537G>A c.8414G>A (p.Gly2805Asp) n.8510G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.48565464C>A | CA352635024 | COL7A1 | c.8473G>T (p.Gly2825Cys) n.5112G>T c.8500G>T (p.Gly2834Cys) c.8440G>T (p.Gly2814Cys) n.8536G>T c.8413G>T (p.Gly2805Cys) n.8509G>T | |
| 3 | g.48565464C= | CA1363079013 | COL7A1 | c.8473G= (p.Gly2825=) n.5112G= c.8500G= (p.Gly2834=) c.8440G= (p.Gly2814=) n.8536G= c.8413G= (p.Gly2805=) n.8509G= | |
| 3 | g.48565464C>G | CA352635026 | COL7A1 | c.8473G>C (p.Gly2825Arg) n.5112G>C c.8500G>C (p.Gly2834Arg) c.8440G>C (p.Gly2814Arg) n.8536G>C c.8413G>C (p.Gly2805Arg) n.8509G>C | ClinVar |
| 3 | g.48565464C>T | CA2377985 | COL7A1 | c.8473G>A (p.Gly2825Ser) n.5112G>A c.8500G>A (p.Gly2834Ser) c.8440G>A (p.Gly2814Ser) n.8536G>A c.8413G>A (p.Gly2805Ser) n.8509G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48565465G>A | CA2377986 | COL7A1 | c.8472C>T (p.Ala2824=) n.5111C>T c.8499C>T (p.Ala2833=) c.8439C>T (p.Ala2813=) n.8535C>T c.8412C>T (p.Ala2804=) n.8508C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48565465G>C | CA433531990 | COL7A1 | c.8472C>G (p.Ala2824=) n.5111C>G c.8499C>G (p.Ala2833=) c.8439C>G (p.Ala2813=) n.8535C>G c.8412C>G (p.Ala2804=) n.8508C>G | |
| 3 | g.48565465G= | CA1363079018 | COL7A1 | c.8472C= (p.Ala2824=) n.5111C= c.8499C= (p.Ala2833=) c.8439C= (p.Ala2813=) n.8535C= c.8412C= (p.Ala2804=) n.8508C= | |
| 3 | g.48565465G>T | CA433531991 | COL7A1 | c.8472C>A (p.Ala2824=) n.5111C>A c.8499C>A (p.Ala2833=) c.8439C>A (p.Ala2813=) n.8535C>A c.8412C>A (p.Ala2804=) n.8508C>A | |
| 3 | g.48565466G>A | CA352635031 | COL7A1 | c.8471C>T (p.Ala2824Val) n.5110C>T c.8498C>T (p.Ala2833Val) c.8438C>T (p.Ala2813Val) n.8534C>T c.8411C>T (p.Ala2804Val) n.8507C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48565466G>C | CA352635033 | COL7A1 | c.8471C>G (p.Ala2824Gly) n.5110C>G c.8498C>G (p.Ala2833Gly) c.8438C>G (p.Ala2813Gly) n.8534C>G c.8411C>G (p.Ala2804Gly) n.8507C>G | |
| 3 | g.48565466G= | CA1363079026 | COL7A1 | c.8471C= (p.Ala2824=) n.5110C= c.8498C= (p.Ala2833=) c.8438C= (p.Ala2813=) n.8534C= c.8411C= (p.Ala2804=) n.8507C= | |
| 3 | g.48565466G>T | CA352635034 | COL7A1 | c.8471C>A (p.Ala2824Asp) n.5110C>A c.8498C>A (p.Ala2833Asp) c.8438C>A (p.Ala2813Asp) n.8534C>A c.8411C>A (p.Ala2804Asp) n.8507C>A | |
| 3 | g.48565467C>A | CA352635040 | COL7A1 | c.8470G>T (p.Ala2824Ser) n.5109G>T c.8497G>T (p.Ala2833Ser) c.8437G>T (p.Ala2813Ser) n.8533G>T c.8410G>T (p.Ala2804Ser) n.8506G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.48565467C= | CA1363079028 | COL7A1 | c.8470G= (p.Ala2824=) n.5109G= c.8497G= (p.Ala2833=) c.8437G= (p.Ala2813=) n.8533G= c.8410G= (p.Ala2804=) n.8506G= | |
| 3 | g.48565467C>G | CA352635037 | COL7A1 | c.8470G>C (p.Ala2824Pro) n.5109G>C c.8497G>C (p.Ala2833Pro) c.8437G>C (p.Ala2813Pro) n.8533G>C c.8410G>C (p.Ala2804Pro) n.8506G>C | |
| 3 | g.48565467C>T | CA352635039 | COL7A1 | c.8470G>A (p.Ala2824Thr) n.5109G>A c.8497G>A (p.Ala2833Thr) c.8437G>A (p.Ala2813Thr) n.8533G>A c.8410G>A (p.Ala2804Thr) n.8506G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48565468A>C | CA433531992 | COL7A1 | c.8469T>G (p.Thr2823=) n.5108T>G c.8496T>G (p.Thr2832=) c.8436T>G (p.Thr2812=) n.8532T>G c.8409T>G (p.Thr2803=) n.8505T>G | |
| 3 | g.48565468A>G | CA433531993 | COL7A1 | c.8469T>C (p.Thr2823=) n.5108T>C c.8496T>C (p.Thr2832=) c.8436T>C (p.Thr2812=) n.8532T>C c.8409T>C (p.Thr2803=) n.8505T>C | |
| 3 | g.48565468A>T | CA433531995 | COL7A1 | c.8469T>A (p.Thr2823=) n.5108T>A c.8496T>A (p.Thr2832=) c.8436T>A (p.Thr2812=) n.8532T>A c.8409T>A (p.Thr2803=) n.8505T>A | |
| 3 | g.48565469G>A | CA352635042 | COL7A1 | c.8468C>T (p.Thr2823Ile) n.5107C>T c.8495C>T (p.Thr2832Ile) c.8435C>T (p.Thr2812Ile) n.8531C>T c.8408C>T (p.Thr2803Ile) n.8504C>T | |
| 3 | g.48565469G>C | CA352635044 | COL7A1 | c.8468C>G (p.Thr2823Ser) n.5107C>G c.8495C>G (p.Thr2832Ser) c.8435C>G (p.Thr2812Ser) n.8531C>G c.8408C>G (p.Thr2803Ser) n.8504C>G | |
| 3 | g.48565469G>T | CA352635046 | COL7A1 | c.8468C>A (p.Thr2823Asn) n.5107C>A c.8495C>A (p.Thr2832Asn) c.8435C>A (p.Thr2812Asn) n.8531C>A c.8408C>A (p.Thr2803Asn) n.8504C>A | |
| 3 | g.48565470T>A | CA352635048 | COL7A1 | c.8467A>T (p.Thr2823Ser) n.5106A>T c.8494A>T (p.Thr2832Ser) c.8434A>T (p.Thr2812Ser) n.8530A>T c.8407A>T (p.Thr2803Ser) n.8503A>T | |
| 3 | g.48565470T>C | CA352635050 | COL7A1 | c.8467A>G (p.Thr2823Ala) n.5106A>G c.8494A>G (p.Thr2832Ala) c.8434A>G (p.Thr2812Ala) n.8530A>G c.8407A>G (p.Thr2803Ala) n.8503A>G | |
| 3 | g.48565470T>G | CA352635051 | COL7A1 | c.8467A>C (p.Thr2823Pro) n.5106A>C c.8494A>C (p.Thr2832Pro) c.8434A>C (p.Thr2812Pro) n.8530A>C c.8407A>C (p.Thr2803Pro) n.8503A>C | gnomAD v4 |
| 3 | g.48565471G>A | CA433531998 | COL7A1 | c.8466C>T (p.Asp2822=) n.5105C>T c.8493C>T (p.Asp2831=) c.8433C>T (p.Asp2811=) n.8529C>T c.8406C>T (p.Asp2802=) n.8502C>T |