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.21561134_21561141del | CA645512747 | ALPL | c.219_226del (p.Lys74AlafsTer?) n.279_286del c.66+389_66+396del (n.66+389_66+396del) c.54_61del (p.Lys19AlafsTer?) c.67-4_70del | COSMIC |
| 1 | g.21561139dup | CA913072868 | ALPL | c.224dup (p.Gln76SerfsTer?) n.284dup c.66+394dup (n.66+394dup) c.59dup (p.Gln21SerfsTer?) c.68dup | |
| 1 | g.21561139G>A | CA338877972 | ALPL | c.224G>A (p.Gly75Asp) n.284G>A c.66+394G>A (n.66+394G>A) c.59G>A (p.Gly20Asp) c.68G>A (p.Gly23Asp) | |
| 1 | g.21561139G>C | CA338877974 | ALPL | c.224G>C (p.Gly75Ala) n.284G>C c.66+394G>C (n.66+394G>C) c.59G>C (p.Gly20Ala) c.68G>C (p.Gly23Ala) | |
| 1 | g.21561139G>T | CA338877975 | ALPL | c.224G>T (p.Gly75Val) n.284G>T c.66+394G>T (n.66+394G>T) c.59G>T (p.Gly20Val) c.68G>T (p.Gly23Val) | |
| 1 | g.21561140_21561143dup | CA658820984 | ALPL | c.225_228dup (p.Leu77SerfsTer?) n.285_288dup c.66+395_66+398dup (n.66+395_66+398dup) c.60_63dup (p.Leu22SerfsTer?) c.69_72dup (p.Leu25SerfsTer?) | ClinVar dbSNP |
| 1 | g.21561140T>A | CA416534110 | ALPL | c.225T>A (p.Gly75=) n.285T>A c.66+395T>A (n.66+395T>A) c.60T>A (p.Gly20=) c.69T>A (p.Gly23=) | |
| 1 | g.21561140T>C | CA416534111 | ALPL | c.225T>C (p.Gly75=) n.285T>C c.66+395T>C (n.66+395T>C) c.60T>C (p.Gly20=) c.69T>C (p.Gly23=) | gnomAD v4 |
| 1 | g.21561140T>G | CA416534109 | ALPL | c.225T>G (p.Gly75=) n.285T>G c.66+395T>G (n.66+395T>G) c.60T>G (p.Gly20=) c.69T>G (p.Gly23=) | ClinVar dbSNP |
| 1 | g.21561140T= | CA1158013235 | ALPL | c.225T= (p.Gly75=) n.285T= c.66+395T= (n.66+395T=) c.60T= (p.Gly20=) c.69T= (p.Gly23=) | |
| 1 | g.21561141C>A | CA338877977 | ALPL | c.226C>A (p.Gln76Lys) n.286C>A c.66+396C>A (n.66+396C>A) c.61C>A (p.Gln21Lys) c.70C>A (p.Gln24Lys) | |
| 1 | g.21561141C= | CA1158013236 | ALPL | c.226C= (p.Gln76=) n.286C= c.66+396C= (n.66+396C=) c.61C= (p.Gln21=) c.70C= (p.Gln24=) | |
| 1 | g.21561141C>G | CA338877979 | ALPL | c.226C>G (p.Gln76Glu) n.286C>G c.66+396C>G (n.66+396C>G) c.61C>G (p.Gln21Glu) c.70C>G (p.Gln24Glu) | |
| 1 | g.21561141C>T | CA338877981 | ALPL | c.226C>T (p.Gln76Ter) n.286C>T c.66+396C>T (n.66+396C>T) c.61C>T (p.Gln21Ter) c.70C>T (p.Gln24Ter) | ClinVar dbSNP gnomAD v2 |
| 1 | g.21561142A= | CA1158013237 | ALPL | c.227A= (p.Gln76=) n.287A= c.66+397A= (n.66+397A=) c.62A= (p.Gln21=) c.71A= (p.Gln24=) | |
| 1 | g.21561142A>C | CA338877983 | ALPL | c.227A>C (p.Gln76Pro) n.287A>C c.66+397A>C (n.66+397A>C) c.62A>C (p.Gln21Pro) c.71A>C (p.Gln24Pro) | |
| 1 | g.21561142A>G | CA16603529 | ALPL | c.227A>G (p.Gln76Arg) n.287A>G c.66+397A>G (n.66+397A>G) c.62A>G (p.Gln21Arg) c.71A>G (p.Gln24Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21561142A>T | CA338877986 | ALPL | c.227A>T (p.Gln76Leu) n.287A>T c.66+397A>T (n.66+397A>T) c.62A>T (p.Gln21Leu) c.71A>T (p.Gln24Leu) | |
| 1 | g.21561143del | CA2586966218 | ALPL | c.228del (p.Gln76HisfsTer?) n.288del c.66+398del (n.66+398del) c.63del (p.Gln21HisfsTer?) c.72del (p.Gln24HisfsTer?) | |
| 1 | g.21561143G>A | CA416534112 | ALPL | c.228G>A (p.Gln76=) n.288G>A c.66+398G>A (n.66+398G>A) c.63G>A (p.Gln21=) c.72G>A (p.Gln24=) | |
| 1 | g.21561143G>C | CA338877988 | ALPL | c.228G>C (p.Gln76His) n.288G>C c.66+398G>C (n.66+398G>C) c.63G>C (p.Gln21His) c.72G>C (p.Gln24His) | |
| 1 | g.21561143G>T | CA338877990 | ALPL | c.228G>T (p.Gln76His) n.288G>T c.66+398G>T (n.66+398G>T) c.63G>T (p.Gln21His) c.72G>T (p.Gln24His) | |
| 1 | g.21561144C>A | CA338877995 | ALPL | c.229C>A (p.Leu77Ile) n.289C>A c.66+399C>A (n.66+399C>A) c.64C>A (p.Leu22Ile) c.73C>A (p.Leu25Ile) | |
| 1 | g.21561144C>G | CA338877993 | ALPL | c.229C>G (p.Leu77Val) n.289C>G c.66+399C>G (n.66+399C>G) c.64C>G (p.Leu22Val) c.73C>G (p.Leu25Val) | |
| 1 | g.21561144C>T | CA338877992 | ALPL | c.229C>T (p.Leu77Phe) n.289C>T c.66+399C>T (n.66+399C>T) c.64C>T (p.Leu22Phe) c.73C>T (p.Leu25Phe) | |
| 1 | g.21561145T>A | CA338877997 | ALPL | c.230T>A (p.Leu77His) n.290T>A c.66+400T>A (n.66+400T>A) c.65T>A (p.Leu22His) c.74T>A (p.Leu25His) | |
| 1 | g.21561145T>C | CA338878001 | ALPL | c.230T>C (p.Leu77Pro) n.290T>C c.66+400T>C (n.66+400T>C) c.65T>C (p.Leu22Pro) c.74T>C (p.Leu25Pro) | |
| 1 | g.21561145T>G | CA338877999 | ALPL | c.230T>G (p.Leu77Arg) n.290T>G c.66+400T>G (n.66+400T>G) c.65T>G (p.Leu22Arg) c.74T>G (p.Leu25Arg) | |
| 1 | g.21561146C>A | CA416534115 | ALPL | c.231C>A (p.Leu77=) n.291C>A c.66+401C>A (n.66+401C>A) c.66C>A (p.Leu22=) c.75C>A (p.Leu25=) | |
| 1 | g.21561146C>G | CA416534113 | ALPL | c.231C>G (p.Leu77=) n.291C>G c.66+401C>G (n.66+401C>G) c.66C>G (p.Leu22=) c.75C>G (p.Leu25=) | |
| 1 | g.21561146C>T | CA416534114 | ALPL | c.231C>T (p.Leu77=) n.291C>T c.66+401C>T (n.66+401C>T) c.66C>T (p.Leu22=) c.75C>T (p.Leu25=) | |
| 1 | g.21561147C>A | CA338878003 | ALPL | c.232C>A (p.His78Asn) n.292C>A c.66+402C>A (n.66+402C>A) c.67C>A (p.His23Asn) c.76C>A (p.His26Asn) | |
| 1 | g.21561147C= | CA1158013238 | ALPL | c.232C= (p.His78=) n.292C= c.66+402C= (n.66+402C=) c.67C= (p.His23=) c.76C= (p.His26=) | |
| 1 | g.21561147C>G | CA338878004 | ALPL | c.232C>G (p.His78Asp) n.292C>G c.66+402C>G (n.66+402C>G) c.67C>G (p.His23Asp) c.76C>G (p.His26Asp) | |
| 1 | g.21561147C>T | CA338878005 | ALPL | c.232C>T (p.His78Tyr) n.292C>T c.66+402C>T (n.66+402C>T) c.67C>T (p.His23Tyr) c.76C>T (p.His26Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21561148A>C | CA338878008 | ALPL | c.233A>C (p.His78Pro) n.293A>C c.66+403A>C (n.66+403A>C) c.68A>C (p.His23Pro) c.77A>C (p.His26Pro) | |
| 1 | g.21561148A>G | CA338878010 | ALPL | c.233A>G (p.His78Arg) n.293A>G c.66+403A>G (n.66+403A>G) c.68A>G (p.His23Arg) c.77A>G (p.His26Arg) | |
| 1 | g.21561148A>T | CA338878012 | ALPL | c.233A>T (p.His78Leu) n.293A>T c.66+403A>T (n.66+403A>T) c.68A>T (p.His23Leu) c.77A>T (p.His26Leu) | |
| 1 | g.21561149C>A | CA338878014 | ALPL | c.234C>A (p.His78Gln) n.294C>A c.66+404C>A (n.66+404C>A) c.69C>A (p.His23Gln) c.78C>A (p.His26Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.21561149C= | CA1158013239 | ALPL | c.234C= (p.His78=) n.294C= c.66+404C= (n.66+404C=) c.69C= (p.His23=) c.78C= (p.His26=) | |
| 1 | g.21561149C>G | CA338878016 | ALPL | c.234C>G (p.His78Gln) n.294C>G c.66+404C>G (n.66+404C>G) c.69C>G (p.His23Gln) c.78C>G (p.His26Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.21561149C>T | CA416534116 | ALPL | c.234C>T (p.His78=) n.294C>T c.66+404C>T (n.66+404C>T) c.69C>T (p.His23=) c.78C>T (p.His26=) | dbSNP gnomAD v4 |
| 1 | g.21561150C>A | CA338878019 | ALPL | c.235C>A (p.His79Asn) n.295C>A c.66+405C>A (n.66+405C>A) c.70C>A (p.His24Asn) c.79C>A (p.His27Asn) | |
| 1 | g.21561150C>G | CA338878020 | ALPL | c.235C>G (p.His79Asp) n.295C>G c.66+405C>G (n.66+405C>G) c.70C>G (p.His24Asp) c.79C>G (p.His27Asp) | |
| 1 | g.21561150C>T | CA338878022 | ALPL | c.235C>T (p.His79Tyr) n.295C>T c.66+405C>T (n.66+405C>T) c.70C>T (p.His24Tyr) c.79C>T (p.His27Tyr) | |
| 1 | g.21561152_21561153del | CA2695197985 | ALPL | c.237_238del (p.His79GlnfsTer30) n.297_298del c.66+407_66+408del (n.66+407_66+408del) c.72_73del (p.His24GlnfsTer30) c.81_82del (p.His27GlnfsTer30) | ClinVar |
| 1 | g.21561151A>C | CA338878027 | ALPL | c.236A>C (p.His79Pro) n.296A>C c.66+406A>C (n.66+406A>C) c.71A>C (p.His24Pro) c.80A>C (p.His27Pro) | |
| 1 | g.21561151A>G | CA338878024 | ALPL | c.236A>G (p.His79Arg) n.296A>G c.66+406A>G (n.66+406A>G) c.71A>G (p.His24Arg) c.80A>G (p.His27Arg) | gnomAD v4 |
| 1 | g.21561151A>T | CA338878026 | ALPL | c.236A>T (p.His79Leu) n.296A>T c.66+406A>T (n.66+406A>T) c.71A>T (p.His24Leu) c.80A>T (p.His27Leu) | |
| 1 | g.21561152C>A | CA338878028 | ALPL | c.237C>A (p.His79Gln) n.297C>A c.66+407C>A (n.66+407C>A) c.72C>A (p.His24Gln) c.81C>A (p.His27Gln) |