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 |
|---|---|---|---|---|---|
| 15 | g.100887396_100887516delinsGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCC | CA2200258736 | ALDH1A3 | c.205-176_205-56delinsGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCC (n.205-176_205-56delinsGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCC) n.265-176_265-56delinsGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCC c.121-176_121-56delinsGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCC (n.121-176_121-56delinsGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCC) | |
| 15 | g.100887410_100887529del | CA973459986 | ALDH1A3 | c.205-162_205-43del (n.205-162_205-43del) n.265-162_265-43del c.121-162_121-43del (n.121-162_121-43del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887402_100887492delinsGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTT | CA2200258739 | ALDH1A3 | c.205-170_205-80delinsGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTT (n.205-170_205-80delinsGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTT) n.265-170_265-80delinsGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTT c.121-170_121-80delinsGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTT (n.121-170_121-80delinsGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACCTCAAAAGATGACACCCAAACTT) | |
| 15 | g.100887410_100887499del | CA973459989 | ALDH1A3 | c.205-162_205-73del (n.205-162_205-73del) n.265-162_265-73del c.121-162_121-73del (n.121-162_121-73del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887410_100887470delinsTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACC | CA2200258746 | ALDH1A3 | c.205-162_205-102delinsTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACC (n.205-162_205-102delinsTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACC) n.265-162_265-102delinsTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACC c.121-162_121-102delinsTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACC (n.121-162_121-102delinsTTCAAAAGATGACACCCAAACTGCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACC) | |
| 15 | g.100887440_100887469del | CA620120909 | ALDH1A3 | c.205-132_205-103del (n.205-132_205-103del) n.265-132_265-103del c.121-132_121-103del (n.121-132_121-103del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100887432_100887491del | CA973459999 | ALDH1A3 | c.205-140_205-81del (n.205-140_205-81del) n.265-140_265-81del c.121-140_121-81del (n.121-140_121-81del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887461_100887462insTCAGTCACGTCAAAAGATGACACCCAAACT | CA2630633247 | ALDH1A3 | c.205-111_205-110insTCAGTCACGTCAAAAGATGACACCCAAACT (n.205-111_205-110insTCAGTCACGTCAAAAGATGACACCCAAACT) n.265-111_265-110insTCAGTCACGTCAAAAGATGACACCCAAACT c.121-111_121-110insTCAGTCACGTCAAAAGATGACACCCAAACT (n.121-111_121-110insTCAGTCACGTCAAAAGATGACACCCAAACT) | gnomAD v4 |
| 15 | g.100887470_100887529del | CA2599353592 | ALDH1A3 | c.205-102_205-43del (n.205-102_205-43del) n.265-102_265-43del c.121-102_121-43del (n.121-102_121-43del) | gnomAD v3 gnomAD v4 |
| 15 | g.100887440_100887470delinsGTCAAAAGATGACACCCAAACTGCAGTCACC | CA2200258759 | ALDH1A3 | c.205-132_205-102delinsGTCAAAAGATGACACCCAAACTGCAGTCACC (n.205-132_205-102delinsGTCAAAAGATGACACCCAAACTGCAGTCACC) n.265-132_265-102delinsGTCAAAAGATGACACCCAAACTGCAGTCACC c.121-132_121-102delinsGTCAAAAGATGACACCCAAACTGCAGTCACC (n.121-132_121-102delinsGTCAAAAGATGACACCCAAACTGCAGTCACC) | |
| 15 | g.100887455_100887456insGAAACTGCAGTCACTTCAAAAGATGACACC | CA973460009 | ALDH1A3 | c.205-117_205-116insGAAACTGCAGTCACTTCAAAAGATGACACC (n.205-117_205-116insGAAACTGCAGTCACTTCAAAAGATGACACC) n.265-117_265-116insGAAACTGCAGTCACTTCAAAAGATGACACC c.121-117_121-116insGAAACTGCAGTCACTTCAAAAGATGACACC (n.121-117_121-116insGAAACTGCAGTCACTTCAAAAGATGACACC) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887462_100887491del | CA275603116 | ALDH1A3 | c.205-110_205-81del (n.205-110_205-81del) n.265-110_265-81del c.121-110_121-81del (n.121-110_121-81del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100887447_100887458dup | CA919633499 | ALDH1A3 | c.205-125_205-114dup (n.205-125_205-114dup) n.265-125_265-114dup c.121-125_121-114dup (n.121-125_121-114dup) | dbSNP gnomAD v4 |
| 15 | g.100887448A>G | CA2630633289 | ALDH1A3 | c.205-124A>G (n.205-124A>G) n.265-124A>G c.121-124A>G (n.121-124A>G) | gnomAD v4 |
| 15 | g.100887450G>A | CA2630633292 | ALDH1A3 | c.205-122G>A (n.205-122G>A) n.265-122G>A c.121-122G>A (n.121-122G>A) | gnomAD v4 |
| 15 | g.100887450G>T | CA2630633294 | ALDH1A3 | c.205-122G>T (n.205-122G>T) n.265-122G>T c.121-122G>T (n.121-122G>T) | gnomAD v4 |
| 15 | g.100887451A>T | CA2630633295 | ALDH1A3 | c.205-121A>T (n.205-121A>T) n.265-121A>T c.121-121A>T (n.121-121A>T) | gnomAD v4 |
| 15 | g.100887456C= | CA2200258761 | ALDH1A3 | c.205-116C= (n.205-116C=) n.265-116C= c.121-116C= (n.121-116C=) | |
| 15 | g.100887456C>G | CA710669310 | ALDH1A3 | c.205-116C>G (n.205-116C>G) n.265-116C>G c.121-116C>G (n.121-116C>G) | dbSNP gnomAD v4 |
| 15 | g.100887457A= | CA2200258762 | ALDH1A3 | c.205-115A= (n.205-115A=) n.265-115A= c.121-115A= (n.121-115A=) | |
| 15 | g.100887457A>G | CA2200258763 | ALDH1A3 | c.205-115A>G (n.205-115A>G) n.265-115A>G c.121-115A>G (n.121-115A>G) | dbSNP |
| 15 | g.100887457_100887461del | CA973460016 | ALDH1A3 | c.205-115_205-111del (n.205-115_205-111del) n.265-115_265-111del c.121-115_121-111del (n.121-115_121-111del) | gnomAD v3 gnomAD v4 |
| 15 | g.100887458A= | CA2200258764 | ALDH1A3 | c.205-114A= (n.205-114A=) n.265-114A= c.121-114A= (n.121-114A=) | |
| 15 | g.100887458A>C | CA2805468337 | ALDH1A3 | c.205-114A>C (n.205-114A>C) n.265-114A>C c.121-114A>C (n.121-114A>C) | |
| 15 | g.100887458A>G | CA710669316 | ALDH1A3 | c.205-114A>G (n.205-114A>G) n.265-114A>G c.121-114A>G (n.121-114A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887460C>A | CA2630633299 | ALDH1A3 | c.205-112C>A (n.205-112C>A) n.265-112C>A c.121-112C>A (n.121-112C>A) | gnomAD v4 |
| 15 | g.100887461T>A | CA2630633300 | ALDH1A3 | c.205-111T>A (n.205-111T>A) n.265-111T>A c.121-111T>A (n.121-111T>A) | gnomAD v4 |
| 15 | g.100887462G= | CA2200258765 | ALDH1A3 | c.205-110G= (n.205-110G=) n.265-110G= c.121-110G= (n.121-110G=) | |
| 15 | g.100887462G>T | CA275603120 | ALDH1A3 | c.205-110G>T (n.205-110G>T) n.265-110G>T c.121-110G>T (n.121-110G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100887463C>G | CA2630633303 | ALDH1A3 | c.205-109C>G (n.205-109C>G) n.265-109C>G c.121-109C>G (n.121-109C>G) | gnomAD v4 |
| 15 | g.100887463_100887487del | CA973460024 | ALDH1A3 | c.205-109_205-85del (n.205-109_205-85del) n.265-109_265-85del c.121-109_121-85del (n.121-109_121-85del) | gnomAD v3 gnomAD v4 |
| 15 | g.100887470_100887499del | CA2630633305 | ALDH1A3 | c.205-102_205-73del (n.205-102_205-73del) n.265-102_265-73del c.121-102_121-73del (n.121-102_121-73del) | gnomAD v4 |
| 15 | g.100887465G>C | CA2731740756 | ALDH1A3 | c.205-107G>C (n.205-107G>C) n.265-107G>C c.121-107G>C (n.121-107G>C) | dbSNP |
| 15 | g.100887467C= | CA2200258766 | ALDH1A3 | c.205-105C= (n.205-105C=) n.265-105C= c.121-105C= (n.121-105C=) | |
| 15 | g.100887467C>T | CA275603135 | ALDH1A3 | c.205-105C>T (n.205-105C>T) n.265-105C>T c.121-105C>T (n.121-105C>T) | dbSNP gnomAD v4 |
| 15 | g.100887469C>A | CA2630633310 | ALDH1A3 | c.205-103C>A (n.205-103C>A) n.265-103C>A c.121-103C>A (n.121-103C>A) | gnomAD v4 |
| 15 | g.100887469C= | CA2200258767 | ALDH1A3 | c.205-103C= (n.205-103C=) n.265-103C= c.121-103C= (n.121-103C=) | |
| 15 | g.100887469C>T | CA710669321 | ALDH1A3 | c.205-103C>T (n.205-103C>T) n.265-103C>T c.121-103C>T (n.121-103C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887469_100887470insGT | CA973460030 | ALDH1A3 | c.205-103_205-102insGT (n.205-103_205-102insGT) n.265-103_265-102insGT c.121-103_121-102insGT (n.121-103_121-102insGT) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887470C= | CA2200258769 | ALDH1A3 | c.205-102C= (n.205-102C=) n.265-102C= c.121-102C= (n.121-102C=) | |
| 15 | g.100887470C>G | CA275603140 | ALDH1A3 | c.205-102C>G (n.205-102C>G) n.265-102C>G c.121-102C>G (n.121-102C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100887470C>T | CA275603141 | ALDH1A3 | c.205-102C>T (n.205-102C>T) n.265-102C>T c.121-102C>T (n.121-102C>T) | dbSNP gnomAD v4 COSMIC |
| 15 | g.100887470_100887500delinsCTCAAAAGATGACACCCAAACTTCAGTCACG | CA2200258768 | ALDH1A3 | c.205-102_205-72delinsCTCAAAAGATGACACCCAAACTTCAGTCACG (n.205-102_205-72delinsCTCAAAAGATGACACCCAAACTTCAGTCACG) n.265-102_265-72delinsCTCAAAAGATGACACCCAAACTTCAGTCACG c.121-102_121-72delinsCTCAAAAGATGACACCCAAACTTCAGTCACG (n.121-102_121-72delinsCTCAAAAGATGACACCCAAACTTCAGTCACG) | |
| 15 | g.100887470_100887530delinsCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACG | CA2200258770 | ALDH1A3 | c.205-102_205-42delinsCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACG (n.205-102_205-42delinsCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACG) n.265-102_265-42delinsCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACG c.121-102_121-42delinsCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACG (n.121-102_121-42delinsCTCAAAAGATGACACCCAAACTTCAGTCACGTCAAAAGATGACACCCAAACTGCAGTCACG) | |
| 15 | g.100887470_100887471insAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACG | CA973460049 | ALDH1A3 | c.205-102_205-101insAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACG (n.205-102_205-101insAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACG) n.265-102_265-101insAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACG c.121-102_121-101insAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACG (n.121-102_121-101insAAAAGATGACACCGAAACTGCAGTCACTTCAAAAGATGACACCCAAACTGCAGTCACG) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887492_100887521dup | CA973460053 | ALDH1A3 | c.205-80_205-51dup (n.205-80_205-51dup) n.265-80_265-51dup c.121-80_121-51dup (n.121-80_121-51dup) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887492_100887521del | CA973460036 | ALDH1A3 | c.205-80_205-51del (n.205-80_205-51del) n.265-80_265-51del c.121-80_121-51del (n.121-80_121-51del) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.100887484_100887543del | CA620120910 | ALDH1A3 | c.205-88_205-29del (n.205-88_205-29del) n.265-88_265-29del c.121-88_121-29del (n.121-88_121-29del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100887472C>A | CA2575847263 | ALDH1A3 | c.205-100C>A (n.205-100C>A) n.265-100C>A c.121-100C>A (n.121-100C>A) | |
| 15 | g.100887472C>G | CA2630633331 | ALDH1A3 | c.205-100C>G (n.205-100C>G) n.265-100C>G c.121-100C>G (n.121-100C>G) | gnomAD v4 |